Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
G2E3	55632	broad.mit.edu	37	14	31058628	31058628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:31058628G>A	uc001wqk.2	+	3	329	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	G2E3_uc010tpe.1_Missense_Mutation_p.E13K|G2E3_uc010tpf.1_Missense_Mutation_p.E13K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	59					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAAAGAAGAAGAAGGAGTTTA	0.289000														80			48		0	0	0.139131	0	0
ABCG4	64137	broad.mit.edu	37	11	119024977	119024977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:119024977G>A	uc001pvs.3	+	3	700	c.364G>A	c.(364-366)Gga>Aga	p.G122R	ABCG4_uc009zar.3_Missense_Mutation_p.G122R	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	122	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGGAGTCTGGAATGAAGGG	0.547000														37			12		0	0	0.080935	0	0
WRN	7486	broad.mit.edu	37	8	30969276	30969276	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:30969276A>G	uc003xio.4	+	18	3022	c.2234A>G	c.(2233-2235)aAt>aGt	p.N745S	WRN_uc010lvk.3_Missense_Mutation_p.N212S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	745					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAAACAGGGAATATCCTTCAG	0.348000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					24			26		0	0	0.125774	0	0
FLRT1	23769	broad.mit.edu	37	11	63884758	63884759	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:63884758_63884759GG>AA	uc021qks.1	+	0	1019_1020	c.1019_1020GG>AA	c.(1018-1020)cgg>cAA	p.R340Q	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.R340Q	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	312	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R340W(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						ATGTGGCTGCGGGACTGGGTGA	0.658000														33			14		0	0	0.115264	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265476	140265476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:140265476G>A	uc003etn.3	+	9	1817	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CLSTN2_uc003etm.2_Missense_Mutation_p.E543K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	543					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCCTGCAAGGAAGGGCTGGA	0.522000										HNSCC(16;0.037)				27			16		0	0	0.033300	0	0
DMC1	11144	broad.mit.edu	37	22	38934376	38934377	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:38934376_38934377GA>AT	uc003avz.1	-	10	873_874	c.698_699TC>AT	c.(697-699)ttc>tAT	p.F233Y	DMC1_uc011anv.1_Missense_Mutation_p.F178Y	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	233					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CACGGCCACTGAAATCCACTCG	0.376000								Homologous recombination						33			32		0	0	0.115264	0	0
MFSD10	10227	broad.mit.edu	37	4	2933366	2933366	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:2933366G>A	uc003gfw.3	-	7	1253	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MFSD10_uc021xks.1_Silent_p.F237F|MFSD10_uc003gfz.3_Silent_p.F313F	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	313					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCGATGAGGAAAAACATCT	0.682000														9			10		0	0	0.058154	0	0
FAM181A	90050	broad.mit.edu	37	14	94394732	94394732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:94394732C>T	uc001ybz.2	+	2	612	c.287C>T	c.(286-288)tCc>tTc	p.S96F	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.S34F|FAM181A_uc021saz.1_Missense_Mutation_p.S34F|FAM181A_uc010aus.2_Missense_Mutation_p.S34F|FAM181A_uc001yca.2_Missense_Mutation_p.S34F	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	96										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCGCCGCTCCGTGGACCAT	0.612000														22			19		0	0	0.049695	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902757	30902757	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:30902757C>T	uc009yjk.1	-	24	3585	c.3516G>A	c.(3514-3516)gaG>gaA	p.E1172E	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.E831E|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	74					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CCATATCTCGCTCTATGTCGT	0.468000														38			25		0	0	0.099896	0	0
TRPC6	7225	broad.mit.edu	37	11	101375367	101375367	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101375367G>A	uc001pgk.4	-	1	758	c.333C>T	c.(331-333)atC>atT	p.I111I	TRPC6_uc009ywy.3_Silent_p.I111I|TRPC6_uc009ywz.1_Silent_p.I111I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	111					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCACCACTGGGATGTTACCAT	0.478000														42			49		0	0	0.139131	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:55136058G>A	uc010rif.2	+	0	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000														48			50		0	0	0.139131	0	0
WRNIP1	56897	broad.mit.edu	37	6	2783732	2783732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:2783732G>A	uc003mtz.3	+	4	1770	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	WRNIP1_uc003mua.3_Missense_Mutation_p.E502K	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	527					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TCGCATGCTCGAGGGAGGAGA	0.602000														41			16		0	0	0.038395	0	0
HK2	3099	broad.mit.edu	37	2	75108959	75108959	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:75108959G>A	uc002snd.3	+	10	3618	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	564	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCATCCCGCAGGAGGTCATGC	0.617000														22			14		0	0	0.105934	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277853	41277853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:41277853C>T	uc010hia.1	+	12	1973	c.1817C>T	c.(1816-1818)cCc>cTc	p.P606L	CTNNB1_uc003ckq.2_Missense_Mutation_p.P606L|CTNNB1_uc003ckp.2_Missense_Mutation_p.P606L|CTNNB1_uc003ckr.2_Missense_Mutation_p.P606L|CTNNB1_uc011azf.1_Missense_Mutation_p.P599L|CTNNB1_uc011azg.1_Missense_Mutation_p.P534L|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.P41L	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	606					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTTTATTCTCCCATTGAAAAC	0.453000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					88			65		0	0	0.139131	0	0
MARCH9	92979	broad.mit.edu	37	12	58152034	58152034	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:58152034C>T	uc001spx.2	+	2	1088	c.657C>T	c.(655-657)ctC>ctT	p.L219L	MARCH9_uc001spy.3_Silent_p.L106L	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	219						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGGATCTGCTCTTTCAGATCT	0.537000														29			16		0	0	0.146539	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965160	119965160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:119965160G>A	uc001ehs.3	+	2	1809	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	HSD3B2_uc021ost.1_Missense_Mutation_p.E346K|HSD3B2_uc001eht.3_Missense_Mutation_p.E346K|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	346					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.W345L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTACAGCTGGGAGGAAGCCAA	0.507000														31			32		0	0	0.045705	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:137814319G>A	uc002tva.1	+	1	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000														97			37		0	0	0.069456	0	0
C8orf34	116328	broad.mit.edu	37	8	69445342	69445342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:69445342G>A	uc010lyz.3	+	6	1354	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	C8orf34_uc010lyy.2_Missense_Mutation_p.E355K|C8orf34_uc003xyb.3_Missense_Mutation_p.E244K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	269					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCTGTAACAGAAGAAGATAT	0.358000														40			27		0	0	0.116897	0	0
CER1	9350	broad.mit.edu	37	9	14722326	14722326	+	Silent	SNP	C	T	T	rs138557355		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:14722326C>T	uc003zlj.3	-	0	390	c.345G>A	c.(343-345)ccG>ccA	p.P115P		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	115					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TTCCATCTATCGGCTGGATGA	0.507000														74			48		0	0	0.139131	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557548	36557548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:36557548C>T	uc001bzt.3	+	3	607	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	185						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CACGCCTCCTCCCTGGGTTAC	0.637000														39			21		0	0	0.076483	0	0
FAT4	79633	broad.mit.edu	37	4	126389861	126389861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:126389861G>A	uc003ifj.4	+	10	12094	c.12094G>A	c.(12094-12096)Gaa>Aaa	p.E4032K	FAT4_uc011cgp.2_Missense_Mutation_p.E2295K|FAT4_uc003ifi.1_Missense_Mutation_p.E1510K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4032	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAATTGCCGAAGAAAGACT	0.413000														30			32		0	0	0.144211	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787008	121787008	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:121787008G>A	uc003ksw.1	+	9	2672	c.2466G>A	c.(2464-2466)gtG>gtA	p.V822V	SNCAIP_uc011cwl.1_Silent_p.V380V|SNCAIP_uc003ksy.1_Silent_p.V456V|SNCAIP_uc003ksx.1_Silent_p.V869V|SNCAIP_uc003ksz.1_Silent_p.V456V|SNCAIP_uc010jcu.2_Silent_p.V418V|SNCAIP_uc011cwm.1_Silent_p.V456V|SNCAIP_uc003kta.1_Silent_p.V454V|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.V516V|SNCAIP_uc010jcx.1_Silent_p.V762V|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.V338V	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	822					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGAGCCTGTGGTGCAGATGG	0.498000														41			25		0	0	0.091800	0	0
USP10	9100	broad.mit.edu	37	16	84767063	84767063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:84767063C>T	uc010voe.2	+	2	307	c.56C>T	c.(55-57)cCt>cTt	p.P19L	USP10_uc002fii.3_Missense_Mutation_p.P15L|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	15	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GATTTTAGCCCTGATGAATTC	0.289000														69			28		0	0	0.050027	0	0
GPR113	165082	broad.mit.edu	37	2	26534719	26534719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:26534719G>A	uc002rhe.4	-	10	1877	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	GPR113_uc010yky.1_Missense_Mutation_p.S557F|GPR113_uc002rhb.1_Missense_Mutation_p.S229F|GPR113_uc010eyk.1_Missense_Mutation_p.S427F|GPR113_uc002rhc.1_Missense_Mutation_p.S229F|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	626					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTAGGGAAGGAGATGCTGTA	0.567000														15			17		0	0	0.146539	0	0
TTC14	151613	broad.mit.edu	37	3	180322733	180322733	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:180322733C>T	uc003fkk.3	+	5	927	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TTC14_uc003fkl.3_Silent_p.F265F|TTC14_uc003fkm.2_Silent_p.F265F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	265							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAGTTGAATTCCTTCTAGAAA	0.368000														16			10		0	0	0.069234	0	0
MYH1	4619	broad.mit.edu	37	17	10419519	10419519	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:10419519G>A	uc002gmo.3	-	3	439	c.345C>T	c.(343-345)atC>atT	p.I115I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	115	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AACTCACGTAGATCATCCAGG	0.438000														74			52		0	0	0.139131	0	0
CSMD1	64478	broad.mit.edu	37	8	3443700	3443700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:3443700C>T	uc022aqr.1	-	8	1570	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	395	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGAGCGTCTCTGTAACTCTC	0.478000														6			25		0	0	0.083992	0	0
POU6F2	11281	broad.mit.edu	37	7	39247072	39247072	+	Missense_Mutation	SNP	C	T	T	rs150551730		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:39247072C>T	uc003thb.2	+	4	507	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	POU6F2_uc022acb.1_Missense_Mutation_p.L122F|POU6F2_uc010kxo.3_Missense_Mutation_p.L114F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	122					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCCAATCCTCATTCCCTT	0.592000														254			62		0	0	0.139131	0	0
UGGT1	56886	broad.mit.edu	37	2	128938530	128938530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:128938530C>T	uc002tps.3	+	35	4145	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	UGGT1_uc002tpr.3_Missense_Mutation_p.R1299W	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1323	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAAATGGCCCCGGTGGCTTCA	0.388000														48			31		0	0	0.144211	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76461454	76461454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:76461454G>A	uc002fex.1	+	2	644	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	CNTNAP4_uc002feu.1_Missense_Mutation_p.G165S|CNTNAP4_uc002fev.1_Missense_Mutation_p.G78S|CNTNAP4_uc010chb.1_Missense_Mutation_p.G141S|CNTNAP4_uc002few.2_Missense_Mutation_p.G141S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	166	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L168P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAACCCCAAGGGCAGAATTGG	0.408000														56			43		0	0	0.098360	0	0
NRG3	10718	broad.mit.edu	37	10	84733611	84733611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:84733611C>T	uc021pvc.1	+	6	1379	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	NRG3_uc010qlz.1_Missense_Mutation_p.P450L|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P451L|NRG3_uc001kcp.2_Missense_Mutation_p.P230L|NRG3_uc001kcq.2_Missense_Mutation_p.P101L|NRG3_uc021pvd.1_Missense_Mutation_p.P230L|NRG3_uc021pve.1_Missense_Mutation_p.P255L|NRG3_uc021pvf.1_Missense_Mutation_p.P101L|NRG3_uc021pvg.1_Missense_Mutation_p.P255L|NRG3_uc021pvh.1_Missense_Mutation_p.P39L|NRG3_uc021pvi.1_Missense_Mutation_p.P281L|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.P101L|NRG3_uc021pvl.1_Missense_Mutation_p.P101L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	451					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.P451P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTGTCGGCCCCCAGTCATTC	0.502000														33			24		0	0	0.091800	0	0
APOL5	80831	broad.mit.edu	37	22	36113929	36113929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:36113929G>A	uc003aof.3	+	0	11	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	4					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGCCATGTGGCAAACAAGGA	0.373000														12			14		0	0	0.038395	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061887	66061887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:66061887C>T	uc001ohl.3	+	1	282	c.170C>T	c.(169-171)gCc>gTc	p.A57V		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	57						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GCCTGCGGGGCCGTGGTGGCC	0.741000														20			23		0	0	0.076483	0	0
DUSP27	92235	broad.mit.edu	37	1	167097626	167097626	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:167097626G>A	uc001geb.1	+	4	3274	c.3258G>A	c.(3256-3258)agG>agA	p.R1086R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1086					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGCCAAGAGGAAGTTCACCC	0.522000														17			12		0	0	0.093190	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544223	28544223	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:28544223G>A	uc002hey.4	-	5	1342	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	266					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGCTGAAGTAGATAACAGTGA	0.612000														58			41		0	0	0.104719	0	0
SLC35E2	9906	broad.mit.edu	37	1	1670360	1670360	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:1670360C>T	uc001aia.2	-	3	881	c.458_splice	c.e3+1	p.R153_splice	SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Splice_Site_p.R153_splice	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA.	153						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGATTCTTTACCTCATCAGAC	0.468000														15			5		0	0	0.069234	0	0
VPS13D	55187	broad.mit.edu	37	1	12337851	12337851	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:12337851G>A	uc001atv.3	+	18	4347	c.4206G>A	c.(4204-4206)ttG>ttA	p.L1402L	VPS13D_uc001atw.3_Silent_p.L1402L|VPS13D_uc001atx.3_Silent_p.L590L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1402					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGACACTTGGGACAGATAT	0.428000														40			29		0	0	0.054565	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049047	36049047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:36049047G>A	uc003jjz.2	-	3	919	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	UGT3A2_uc011cos.2_Missense_Mutation_p.P229S|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	263						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAGTGTTGGGAAGCAGAGGT	0.448000														31			26		0	0	0.099896	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348016	140348016	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140348016G>A	uc003lii.3	+	0	2270	c.1665G>A	c.(1663-1665)ggG>ggA	p.G555G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.G555G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	555	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACAAGGGGAGCCCACCAC	0.512000														42			28		0	0	0.144211	0	0
FAT3	120114	broad.mit.edu	37	11	92534326	92534326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:92534326C>T	uc001pdj.4	+	8	8164	c.8147C>T	c.(8146-8148)aCc>aTc	p.T2716I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2716	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCCTTTACCATTGCAGAA	0.502000										TCGA Ovarian(4;0.039)				399			281		0	0	0.139131	0	0
ZNF248	57209	broad.mit.edu	37	10	38121734	38121734	+	Silent	SNP	G	A	A	rs145831910		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:38121734G>A	uc001izd.1	-	5	1048	c.549C>T	c.(547-549)atC>atT	p.I183I	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.I183I	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCAATAGGGATTTTCTCAT	0.343000														25			21		0	0	0.055883	0	0
PRPF8	10594	broad.mit.edu	37	17	1564924	1564924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:1564924C>T	uc002fte.3	-	25	4297	c.4183G>A	c.(4183-4185)Gag>Aag	p.E1395K		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1395						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCAATGGCCTCTTGCCTCTTG	0.577000														26			19		0	0	0.055883	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723813	140723813	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140723813G>A	uc003ljm.2	+	0	213	c.213G>A	c.(211-213)agG>agA	p.R71R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.R71R	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	71	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGGTAGGACGCAGCTTT	0.607000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			54		0	0	0.139131	0	0
KLHL21	9903	broad.mit.edu	37	1	6659204	6659204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:6659204C>T	uc001aoa.3	-	1	1382	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	KLHL21_uc001anz.1_Missense_Mutation_p.D444N|KLHL21_uc009vme.3_Missense_Mutation_p.D77N	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	444					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		AGGTCGGTGTCCGGGTCGTAG	0.637000														14			13		0	0	0.093190	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968157	80968157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:80968157C>T	uc001kaf.2	+	5	697	c.125C>T	c.(124-126)cCa>cTa	p.P42L	ZMIZ1_uc001kae.3_Missense_Mutation_p.P42L	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	42					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGAGACCCACGGGCCTTC	0.617000														19			13		0	0	0.146539	0	0
TRPV2	51393	broad.mit.edu	37	17	16340149	16340149	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:16340149G>A	uc002gpy.3	+	14	2640	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	TRPV2_uc002gpz.3_Silent_p.E317E|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	747					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGAGGATGAGGATGGTGCCT	0.557000														69			30		0	0	0.064281	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353909	45353909	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:45353909C>T	uc002xsl.3	+	1	331	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	78						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAAGCCATCCTCGGGAGCA	0.662000														43			22		0	0	0.099896	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261104	23261104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:23261104C>T	uc001yvh.1	+	8	1078	c.536C>T	c.(535-537)tCg>tTg	p.S179L	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGAAAAATGTCGCAGGAGGTG	0.468000														48			35		0	0	0.139131	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967158	39967158	+	Silent	SNP	G	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:39967158G>T	uc002hxu.3	-	3	1211	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Silent_p.A248A	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	248					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	p.H339R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCTGCTCATGGGCCCCTTCAC	0.642000														18			18		8.34094e-07	9.21409e-07	0.049695	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102483220	102483220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:102483220G>A	uc001yks.2	+	37	7896	c.7732G>A	c.(7732-7734)Gaa>Aaa	p.E2578K	DYNC1H1_uc001ykt.1_Missense_Mutation_p.E69K	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2578	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGTCCGCCACGAAGCCCTCTT	0.622000														22			23		0	0	0.099896	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766754	64766754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:64766754C>T	uc003jtp.3	-	2	1127	c.313G>A	c.(313-315)Gat>Aat	p.D105N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	105					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACACAAAATCTGTGTTGAGA	0.378000														38			28		0	0	0.108266	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48517439	48517439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:48517439G>A	uc002pht.3	+	2	260	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	28	Fibronectin type-II 1.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATGCATGAGGAATGTGTCTT	0.463000														112			62		0	0	0.139131	0	0
MAP6	4135	broad.mit.edu	37	11	75299108	75299108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:75299108C>T	uc001owu.3	-	3	1503	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	480						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCAGAGGCTCTTGCACCATA	0.517000														87			73		0	0	0.139131	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:110710562C>T	uc003kpf.3	+	2	490	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000														24			17		0	0	0.033300	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993836	75993836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:75993836C>T	uc003kek.3	+	32	4453	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	IQGAP2_uc011csv.2_Missense_Mutation_p.R907C|IQGAP2_uc003kel.3_Missense_Mutation_p.R907C|IQGAP2_uc010izw.1_Missense_Mutation_p.R112C	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1411					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding	p.R1411C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAATCTATCGTAAGCTTCG	0.353000														16			9		0	0	0.069234	0	0
ELP4	26610	broad.mit.edu	37	11	31671743	31671743	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:31671743T>A	uc001mtc.3	+	8	1152	c.1117T>A	c.(1117-1119)Tta>Ata	p.L373I	ELP4_uc001mtb.3_Missense_Mutation_p.L373I|ELP4_uc010rdz.2_Missense_Mutation_p.L374I			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	373					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGCTTTTAAATTAAAAAGGAA	0.269000														10			20		0	0	0.049695	0	0
CELA2A	63036	broad.mit.edu	37	1	15789319	15789319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:15789319G>A	uc001awk.3	+	3	345	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	107	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TAAGATTGTGGTGCACAAGGA	0.587000														85			55		0	0	0.139131	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022309	161022309	+	Silent	SNP	C	T	T	rs140126629		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:161022309C>T	uc001fxl.3	-	7	1207	c.861G>A	c.(859-861)agG>agA	p.R287R	ARHGAP30_uc001fxk.3_Silent_p.R287R|ARHGAP30_uc001fxm.3_Silent_p.R133R|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.R133R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V286V(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACCTCCACTTCCTGACCTTCA	0.552000														109			67		0	0	0.139131	0	0
PRSS42	339906	broad.mit.edu	37	3	46874578	46874578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:46874578G>A	uc011bap.2	-	2	490	c.490C>T	c.(490-492)Cga>Tga	p.R164*	PRSS42_uc003cqj.3_Nonsense_Mutation_p.R60*	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	164	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AGGTCATTTCGAATGGTTGTA	0.458000														43			30		0	0	0.134883	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370413	86370413	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:86370413C>T	uc001vll.1	-	1	690	c.231G>A	c.(229-231)acG>acA	p.T77T	SLITRK6_uc021rla.1_Silent_p.T77T	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	77						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGAAGCATCGTCAAGCCGT	0.368000														119			54		0	0	0.139131	0	0
PEX12	5193	broad.mit.edu	37	17	33904984	33904985	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:33904984_33904985GG>AA	uc002hjp.3	-	0	672_673	c.56_57CC>TT	c.(55-57)tcc>tTT	p.S19F		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	19					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAAAGATGGATGGCTGGTC	0.495000														40			31		0	0	0.115264	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501962	140501962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140501962C>T	uc003lip.1	+	0	382	c.382C>T	c.(382-384)Cac>Tac	p.H128Y		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	128	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAAATGATCACTCTCCAAT	0.418000														36			17		0	0	0.038395	0	0
SDSL	113675	broad.mit.edu	37	12	113873216	113873216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:113873216G>A	uc001tvi.3	+	6	733	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	SDSL_uc009zwh.3_Missense_Mutation_p.G176R	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	176					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	AGTTGGGGGTGGGGGTCTCCT	0.667000														16			8		0	0	0.038147	0	0
GJA8	2703	broad.mit.edu	37	1	147380904	147380904	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:147380904C>T	uc021ovm.1	+	0	822	c.822C>T	c.(820-822)atC>atT	p.I274I	GJA8_uc001epu.2_Silent_p.I274I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	274					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAGAGAAAATCGTTTCCCACT	0.537000														39			19		0	0	0.038395	0	0
ANK3	288	broad.mit.edu	37	10	61844949	61844949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:61844949C>T	uc001jky.3	-	30	4149	c.3811G>A	c.(3811-3813)Gat>Aat	p.D1271N	ANK3_uc001jkw.3_Missense_Mutation_p.D405N|ANK3_uc009xpa.3_Missense_Mutation_p.D405N|ANK3_uc001jkx.3_Missense_Mutation_p.D449N|ANK3_uc010qih.2_Missense_Mutation_p.D1272N|ANK3_uc001jkz.4_Missense_Mutation_p.D1265N|ANK3_uc001jla.1_Missense_Mutation_p.D337N|ANK3_uc001jlb.1_Missense_Mutation_p.D789N|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1271					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGACACAATCTTTTATAAAC	0.388000														19			16		0	0	0.146539	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385969	56385969	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:56385969C>A	uc002ivx.4	-	21	5535	c.4664G>T	c.(4663-4665)tGg>tTg	p.W1555L	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.W1495L|BZRAP1_uc010wnt.2_Missense_Mutation_p.W1555L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1555						mitochondrion	benzodiazepine receptor binding	p.W1555*(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTTTCTCCCAGGCTGGGAG	0.697000														29			24		8.24728e-16	9.26376e-16	0.099896	1	0
FCHO1	23149	broad.mit.edu	37	19	17892342	17892342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:17892342G>A	uc002nhg.3	+	21	2101	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	FCHO1_uc010ebb.2_Missense_Mutation_p.G608R|FCHO1_uc002nhh.2_Missense_Mutation_p.G608R|FCHO1_uc010xpw.1_Missense_Mutation_p.G558R	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	608										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATCCCAGACAGGACACGGTAT	0.612000														33			24		0	0	0.083992	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11846620	11846620	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:11846620G>A	uc002dbk.3	-	20	2829	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	ZC3H7A_uc002dbh.3_Silent_p.S17S|ZC3H7A_uc002dbi.3_Silent_p.S65S|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Silent_p.S877S	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	877						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GCTTCTCGGAGGAGATGTGGC	0.502000														42			32		0	0	0.144211	0	0
PECR	55825	broad.mit.edu	37	2	216904055	216904055	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:216904055C>T	uc002vft.3	-	7	930	c.855G>A	c.(853-855)ggG>ggA	p.G285G	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	285					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGAAAGGTCCCCTGCTCCCT	0.483000														102			51		0	0	0.139131	0	0
CTNND2	1501	broad.mit.edu	37	5	11022887	11022887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:11022887C>T	uc003jfa.1	-	16	3138	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	CTNND2_uc010itt.2_Missense_Mutation_p.G907E|CTNND2_uc011cmy.1_Missense_Mutation_p.G661E|CTNND2_uc011cmz.1_Missense_Mutation_p.G565E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G590E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	998					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTACTTATCTCCTTTGCTTTT	0.483000														29			30		0	0	0.050027	0	0
TRPC6	7225	broad.mit.edu	37	11	101375175	101375175	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101375175C>T	uc001pgk.4	-	1	950	c.525G>A	c.(523-525)cgG>cgA	p.R175R	TRPC6_uc009ywy.3_Silent_p.R175R|TRPC6_uc009ywz.1_Silent_p.R175R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	175					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R175Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTTCCACAATCCGAACATAAC	0.438000														16			24		0	0	0.076483	0	0
TKTL2	84076	broad.mit.edu	37	4	164394716	164394716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164394716C>T	uc003iqp.4	-	0	332	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	57						cytoplasm	metal ion binding|transketolase activity	p.T56T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTATACTTCATCGTGTGGA	0.577000														17			20		0	0	0.043863	0	0
TIGD2	166815	broad.mit.edu	37	4	90034207	90034207	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:90034207T>C	uc003hsk.3	+	0	240	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	28	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AGGCATCTCTTTCAAAAAACT	0.353000														45			22		0	0	0.055883	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432830	110432830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:110432830G>A	uc003yne.3	+	22	2712	c.2608G>A	c.(2608-2610)Ggg>Agg	p.G870R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	870					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAACAAATGGGCCAACTAT	0.373000										HNSCC(38;0.096)				36			26		0	0	0.083992	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					36			64		0	0	0.139131	0	0
SYN1	6853	broad.mit.edu	37	X	47466364	47466364	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:47466364C>T	uc004die.3	-	2	636	c.507G>A	c.(505-507)cgG>cgA	p.R169R	SYN1_uc004did.3_Silent_p.R169R	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	169	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TCACCCCATTCCGAAGAACTT	0.488000														1			14		0	0	0.119110	0	0
IL33	90865	broad.mit.edu	37	9	6250538	6250538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:6250538G>A	uc003zjt.3	+	2	234	c.156G>A	c.(154-156)atG>atA	p.M52I	IL33_uc011lmg.2_Missense_Mutation_p.M52I|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.M52I	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	52					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTGGCCTTATGATAAAAAAGG	0.418000														37			35		0	0	0.054565	0	0
NIPBL	25836	broad.mit.edu	37	5	37049280	37049280	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:37049280C>T	uc003jkl.4	+	39	7330	c.6831C>T	c.(6829-6831)tcC>tcT	p.S2277S	NIPBL_uc003jkk.4_Silent_p.S2277S|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2277					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAGTAGTTCCATCATGCAGC	0.403000														67			45		0	0	0.131918	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652790	30652790	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:30652790G>A	uc003nra.3	-	1	1237	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	PPP1R18_uc003nrb.4_Silent_p.L336L	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	336						cytoplasm|cytoskeleton	actin binding										CCGGAGTTCAGGGTCCATTTC	0.572000														80			124		0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9084874	9084874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9084874C>T	uc002mkp.3	-	0	7145	c.6941G>A	c.(6940-6942)gGa>gAa	p.G2314E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2314	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTTCTCTCTCCCAGTGTAAT	0.483000														13			15		0	0	0.119110	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559726	20559726	+	Missense_Mutation	SNP	C	T	T	rs138313532	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:20559726C>T	uc002dhj.4	-	7	1174	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D322N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D322N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGAAAGATCCTGCTGTAGC	0.493000														70			32		0	0	0.111260	0	0
WWC3	55841	broad.mit.edu	37	X	10085462	10085462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:10085462C>T	uc004csx.4	+	10	1561	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	WWC3_uc010nds.3_Missense_Mutation_p.R119C|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	455	Ser-rich.							p.R455H(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCTGTCCTCCCGCTCCTCGCT	0.711000														1			14		0	0	0.033300	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									47			33		0	0	0.064281	0	0
COL7A1	1294	broad.mit.edu	37	3	48613849	48613849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:48613849C>T	uc003ctz.2	-	68	5757	c.5756G>A	c.(5755-5757)gGa>gAa	p.G1919E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1919	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTTGGATCCAGTCTCCCC	0.612000														13			13		0	0	0.105934	0	0
MYO18B	84700	broad.mit.edu	37	22	26423254	26423254	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:26423254A>C	uc003abz.1	+	42	7564	c.7314A>C	c.(7312-7314)aaA>aaC	p.K2438N	MYO18B_uc003aca.1_Missense_Mutation_p.K2319N|MYO18B_uc010guy.1_Missense_Mutation_p.K2320N|MYO18B_uc010guz.1_Missense_Mutation_p.K2318N|MYO18B_uc011aka.1_Missense_Mutation_p.K1592N|MYO18B_uc011akb.1_Missense_Mutation_p.K1951N|MYO18B_uc010gva.1_Missense_Mutation_p.K421N|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2438						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCAAGACCAAAGTGGACTTCG	0.552000														62			35		0	0	0.086207	0	0
abParts	0	broad.mit.edu	37	14	106405797	106405797	+	RNA	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:106405797G>A	uc021ser.1	-	3033		c.49995C>T								Parts of antibodies, mostly variable regions.																		GGGACTGCCTGATCCAGTTCC	0.527000														61			38		0	0	0.104719	0	0
TTN	7273	broad.mit.edu	37	2	179600389	179600389	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:179600389G>A	uc021vsy.1	-	46	11277	c.11052C>T	c.(11050-11052)ctC>ctT	p.L3684L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L345L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4611	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCTGGGGGGAGTTTTTGCC	0.428000														23			36		0	0	0.080422	0	0
MUC17	140453	broad.mit.edu	37	7	100686262	100686262	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100686262C>T	uc003uxp.1	+	2	11618	c.11565C>T	c.(11563-11565)ttC>ttT	p.F3855F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3855						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTTCATTCTCCATACCTG	0.473000														46			105		0	0	0.139131	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147023718	147023718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:147023718G>A	uc010jgo.1	-	5	1275	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	JAKMIP2_uc003loq.1_Missense_Mutation_p.S376F|JAKMIP2_uc011dbx.1_Missense_Mutation_p.S334F|JAKMIP2_uc003lor.1_Missense_Mutation_p.S376F|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	376						Golgi apparatus		p.S376Y(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCAGAGATTTTAATTT	0.373000														25			21		0	0	0.062417	0	0
NFAM1	150372	broad.mit.edu	37	22	42793927	42793927	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:42793927C>T	uc003bcn.4	-	3	638	c.600G>A	c.(598-600)agG>agA	p.R200R		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	200					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						CTGGGCACTTCCTGGTGGGGT	0.627000														48			32		0	0	0.054565	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136411	40136411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:40136411G>A	uc021qgf.1	-	0	1432	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P474S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P474S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P478S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P474S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	478					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACTGGAGTGGGACCCACATTG	0.517000														29			27		0	0	0.099896	0	0
PCDH15	65217	broad.mit.edu	37	10	55782888	55782888	+	Missense_Mutation	SNP	G	A	A	rs34553661		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:55782888G>A	uc010qhy.1	-	19	2700	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	764	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGTGATACGAAAAAGATTA	0.368000										HNSCC(58;0.16)				33			31		0	0	0.144211	0	0
BMP5	653	broad.mit.edu	37	6	55623891	55623891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:55623891C>T	uc003pcq.3	-	5	1839	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	376					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCAGCGTATCCTTCTGGTGC	0.343000														37			14		0	0	0.119110	0	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	A	A	rs78186669		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:145360584G>A	uc021oul.1	+	73	9244	c.9209G>A	c.(9208-9210)gGg>gAg	p.G3070E	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3070										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483000														16			5		0	0	0.029380	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379699	67379699	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:67379699T>G	uc001omj.2	+	8	1424	c.1271T>G	c.(1270-1272)aTt>aGt	p.I424S	NDUFV1_uc010rpv.1_Missense_Mutation_p.I323S|NDUFV1_uc001omk.4_Missense_Mutation_p.I415S|NDUFV1_uc001oml.2_Missense_Mutation_p.I417S|NDUFV1_uc010rpw.1_Missense_Mutation_p.I133S	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	424					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCCATACGATTTGTGCTCTG	0.622000														145			5		0	0	0.038147	0	0
ATP8A1	10396	broad.mit.edu	37	4	42602500	42602500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:42602500C>T	uc003gwr.2	-	5	677	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	ATP8A1_uc003gws.2_Missense_Mutation_p.E149K|ATP8A1_uc011byz.1_Missense_Mutation_p.E149K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	149					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATACCTTTTCCCAGTGGACA	0.328000														37			28		0	0	0.059317	0	0
EPG5	57724	broad.mit.edu	37	18	43432602	43432602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:43432602G>A	uc002lbm.3	-	43	7670	c.7570C>T	c.(7570-7572)Ctt>Ttt	p.L2524F		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2524					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGGATTCAAGAGCATTCAGA	0.443000														27			14		0	0	0.132662	0	0
GAD2	2572	broad.mit.edu	37	10	26534872	26534872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:26534872G>A	uc001isp.2	+	7	1366	c.863G>A	c.(862-864)gGa>gAa	p.G288E	GAD2_uc001isq.2_Missense_Mutation_p.G288E	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	288					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTCAAGAAGGGAGCTGCAGCC	0.388000														15			5		0	0	0.021553	0	0
GRHL3	57822	broad.mit.edu	37	1	24669432	24669432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:24669432C>T	uc021oiw.1	+	10	1566	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	GRHL3_uc001bix.3_Missense_Mutation_p.L446F|GRHL3_uc021oix.1_Missense_Mutation_p.L400F|GRHL3_uc001biy.3_Missense_Mutation_p.L451F|GRHL3_uc001biz.3_Missense_Mutation_p.L353F	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	446					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GACGACCTACCTTCGGCCAGA	0.637000														101			78		0	0	0.139131	0	0
ZNF646	9726	broad.mit.edu	37	16	31087996	31087996	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:31087996C>T	uc002eap.3	+	1	640	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Silent_p.L117L	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCCACACCTCCAGGGTGAGA	0.587000														31			21		0	0	0.049695	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														79			3		0	0	0.115264	0	0
EPS15	2060	broad.mit.edu	37	1	51869204	51869204	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:51869204C>T	uc001csq.1	-	17	1770	c.1678_splice	c.e17-1	p.A560_splice	EPS15_uc009vyz.1_Splice_Site_p.A426_splice|EPS15_uc001csp.3_Splice_Site_p.A246_splice	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	560					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTACTTCTTGCCTACAAAATA	0.323000			T	MLL	ALL									38			17		0	0	0.038395	0	0
RNF182	221687	broad.mit.edu	37	6	13977475	13977476	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:13977475_13977476GG>AA	uc021ylw.1	+	2	618_619	c.125_126GG>AA	c.(124-126)agg>aAA	p.R42K	RNF182_uc021ylx.1_Missense_Mutation_p.R42K|RNF182_uc003nbe.3_Missense_Mutation_p.R42K|RNF182_uc003nbf.3_Missense_Mutation_p.R42K|RNF182_uc003nbg.3_Missense_Mutation_p.R42K|RNF182_uc021yly.1_Missense_Mutation_p.R42K	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	42						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGTTGTCATAGGGTTTGTGCCA	0.485000														124			48		0	0	0.115264	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:79650840C>T	uc002kbf.3	-	0	115	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	6							GTP binding	p.G6R(2)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000														13			10		0	0	0.093190	0	0
TSPAN2	10100	broad.mit.edu	37	1	115604836	115604836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:115604836C>T	uc001eft.3	-	2	258	c.190G>A	c.(190-192)Gga>Aga	p.G64R	TSPAN2_uc021osc.1_Missense_Mutation_p.G64R	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	64						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GCCCCGGCTCCAACCAGAACA	0.612000														5			3		0	0	0.009096	0	0
CACNA1C	775	broad.mit.edu	37	12	2788894	2788894	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:2788894G>A	uc009zdu.1	+	43	5833	c.5520G>A	c.(5518-5520)gaG>gaA	p.E1840E	CACNA1C_uc001qkc.2_Silent_p.E1811E|CACNA1C_uc001qjz.2_Silent_p.E1792E|CACNA1C_uc001qkd.2_Silent_p.E1811E|CACNA1C_uc001qke.2_Silent_p.E1781E|CACNA1C_uc001qkf.2_Silent_p.E1800E|CACNA1C_uc009zdw.1_Silent_p.E1833E|CACNA1C_uc001qkg.2_Silent_p.E1798E|CACNA1C_uc001qkh.2_Silent_p.E1800E|CACNA1C_uc001qkl.2_Silent_p.E1840E|CACNA1C_uc001qkj.2_Silent_p.E1792E|CACNA1C_uc001qkk.2_Silent_p.E1792E|CACNA1C_uc001qkn.2_Silent_p.E1792E|CACNA1C_uc001qkm.2_Silent_p.E1781E|CACNA1C_uc001qko.2_Silent_p.E1812E|CACNA1C_uc001qkp.2_Silent_p.E1792E|CACNA1C_uc001qkq.2_Silent_p.E1820E|CACNA1C_uc001qku.2_Silent_p.E1792E|CACNA1C_uc001qkr.2_Silent_p.E1809E|CACNA1C_uc001qks.2_Silent_p.E1792E|CACNA1C_uc001qkt.2_Silent_p.E1811E|CACNA1C_uc009zdv.1_Silent_p.E1789E|CACNA1C_uc001qkb.2_Silent_p.E1792E|CACNA1C_uc001qki.1_Silent_p.E1528E|CACNA1C_uc010sea.1_Silent_p.E483E|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E110E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1840					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCACTGTGGAGGGCCACGGGC	0.697000														7			7		0	0	0.029380	0	0
IP6K3	117283	broad.mit.edu	37	6	33690685	33690685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:33690685G>A	uc010jvf.2	-	6	1581	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	IP6K3_uc003ofb.2_Missense_Mutation_p.P349S	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	349					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GCTGCCTGGGGAGCCTCGTGA	0.557000														108			37		0	0	0.092188	0	0
GLI1	2735	broad.mit.edu	37	12	57865615	57865615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:57865615G>A	uc001snx.3	+	11	3186	c.3092G>A	c.(3091-3093)gGa>gAa	p.G1031E	GLI1_uc021qzi.1_Missense_Mutation_p.G990E|GLI1_uc009zpq.3_Missense_Mutation_p.G903E	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1031					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCCCGAAGGACAGGTATGT	0.582000														88			57		0	0	0.139131	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														71			6		0	0	0.021553	0	0
TRANK1	9881	broad.mit.edu	37	3	36893786	36893786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:36893786G>A	uc003cgj.3	-	12	4716	c.4468C>T	c.(4468-4470)Cca>Tca	p.P1490S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1490					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGATTCTGGGAAATAGAAC	0.433000														7			8		0	0	0.047766	0	0
GBF1	8729	broad.mit.edu	37	10	104122406	104122406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:104122406C>T	uc001kux.2	+	14	2152	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	GBF1_uc001kuy.2_Nonsense_Mutation_p.R620*|GBF1_uc001kuz.2_Nonsense_Mutation_p.R621*	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	620					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGATGGCACCCGAGAAGCTAG	0.502000														40			22		0	0	0.076483	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460294	32460294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:32460294G>A	uc021sic.1	+	9	1338	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc001zft.3_Missense_Mutation_p.G382R|CHRNA7_uc010baf.3_Missense_Mutation_p.G201R|CHRNA7_uc010bak.3_Missense_Mutation_p.G297R	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	382				RMACS -> AWPAP (in Ref. 9; CAA80672).	activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CGCCAGCAACGGGAACCTGCT	0.721000														18			5		0	0	0.093190	0	0
NRG2	9542	broad.mit.edu	37	5	139231313	139231313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:139231313G>A	uc003lev.2	-	9	1902	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	NRG2_uc003lew.2_Missense_Mutation_p.P552S|NRG2_uc003lex.2_Missense_Mutation_p.P550S|NRG2_uc003ley.2_Missense_Mutation_p.P544S|NRG2_uc021yed.1_Missense_Mutation_p.P484S	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	550					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACATGCTGGGCTGTTGCAT	0.627000														30			23		0	0	0.091800	0	0
ZBBX	79740	broad.mit.edu	37	3	167023494	167023494	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:167023494C>T	uc011bpc.2	-	16	1999	c.1662G>A	c.(1660-1662)ttG>ttA	p.L554L	ZBBX_uc003feq.3_Silent_p.L525L|ZBBX_uc003fep.3_Silent_p.L554L	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	554						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCTCAATTCCAAGGATTCTT	0.323000														27			18		0	0	0.055883	0	0
KIAA1328	57536	broad.mit.edu	37	18	34415210	34415210	+	Silent	SNP	A	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:34415210A>G	uc002kzz.3	+	2	130	c.108A>G	c.(106-108)gaA>gaG	p.E36E	KIAA1328_uc021uiw.1_Silent_p.E36E	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	36										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTTCTGCTGAAGGAAATGTCA	0.388000														38			55		0	0	0.139131	0	0
FOXR1	283150	broad.mit.edu	37	11	118849898	118849899	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:118849898_118849899CC>TT	uc001pui.3	+	2	593_594	c.368_369CC>TT	c.(367-369)tcc>tTT	p.S123F	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Missense_Mutation_p.P30F	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	123					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TTTGCCTTTTCCCCCAGCACCT	0.599000														28			24		0	0	0.115264	0	0
TOM1L2	146691	broad.mit.edu	37	17	17797059	17797059	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:17797059G>A	uc002grz.4	-	3	439	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TOM1L2_uc002gry.4_Intron|TOM1L2_uc010vwy.2_Silent_p.F94F|TOM1L2_uc010cpr.3_Silent_p.F94F|TOM1L2_uc010vwz.2_Intron|TOM1L2_uc010vxa.2_Silent_p.F94F|TOM1L2_uc010vxb.2_Intron	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA.	94	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CACTGTCGATGAAATCTCGGT	0.517000														38			29		0	0	0.125774	0	0
MRPL40	64976	broad.mit.edu	37	22	19420819	19420819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:19420819G>A	uc002zpg.3	+	1	127	c.85G>A	c.(85-87)Gag>Aag	p.E29K	HIRA_uc002zpf.1_5'Flank|HIRA_uc011agx.1_5'Flank|HIRA_uc010grn.1_5'Flank|HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA.	29					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCAGCTTAGAGAGACTCACCA	0.493000														21			17		0	0	0.055883	0	0
CNTLN	54875	broad.mit.edu	37	9	17135129	17135129	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:17135129C>T	uc003zmz.2	+	0	92	c.66C>T	c.(64-66)tcC>tcT	p.S22S	CNTLN_uc003zmx.4_Silent_p.S22S|CNTLN_uc003zmy.3_Silent_p.S22S|CNTLN_uc003zmw.2_Silent_p.S22S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	22						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCCCCAGGTCCCCACGTGTTG	0.677000														29			22		0	0	0.083992	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146547	70146547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:70146547C>T	uc003hej.3	+	0	331	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B28_uc010ihr.3_Missense_Mutation_p.S110L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	110					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTATATTTTTCACAAGAACAA	0.294000														75			45		0	0	0.139131	0	0
MUC2	4583	broad.mit.edu	37	11	1085976	1085976	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:1085976T>A	uc001lsx.1	+	21	2843	c.2816T>A	c.(2815-2817)aTc>aAc	p.I939N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	939	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTGTGGTGATCCAGCGTGAT	0.642000														35			16		0	0	0.038395	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122010	39122010	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:39122010G>A	uc003awg.3	+	7	1228	c.1074_splice	c.e7-1	p.R358_splice		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	358					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTCTGCTTAGGATGTGCCCG	0.567000														108			63		0	0	0.139131	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														70			4		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9063944	9063944	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9063944C>T	uc002mkp.3	-	2	23706	c.23502G>A	c.(23500-23502)agG>agA	p.R7834R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7836	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTGGACTCCCTCAATCCAG	0.547000														41			31		0	0	0.125774	0	0
GGT6	124975	broad.mit.edu	37	17	4461952	4461952	+	Silent	SNP	T	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:4461952T>C	uc010vsc.2	-	3	918	c.858A>G	c.(856-858)ggA>ggG	p.G286G	GGT6_uc010vsb.2_Silent_p.G132G|GGT6_uc002fyd.4_Silent_p.G280G|GGT6_uc002fyc.4_Silent_p.G248G	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	280					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCCCCAGGTCTCCCGCCAGTA	0.657000														13			3		0	0	0.029380	0	0
OR4M2	390538	broad.mit.edu	37	15	22369004	22369004	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:22369004C>T	uc010tzu.2	+	0	527	c.429C>T	c.(427-429)atC>atT	p.I143I	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGCTGTATCCTGGTGGCTC	0.507000														339			49		0	0	0.139131	0	0
RNF31	55072	broad.mit.edu	37	14	24620799	24620799	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:24620799C>T	uc001wmn.1	+	9	2092	c.1843C>T	c.(1843-1845)Caa>Taa	p.Q615*	RNF31_uc001wml.1_Nonsense_Mutation_p.Q464*|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Nonsense_Mutation_p.Q374*|RNF31_uc001wmo.1_Nonsense_Mutation_p.Q82*|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	615	Interaction with RBCK1.|UBA.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTACAGCGCCAACGCCTAGA	0.642000														36			18		0	0	0.038395	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969002	47969002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:47969002G>A	uc010ele.3	-	0	675	c.659C>T	c.(658-660)tCc>tTc	p.S220F	SLC8A2_uc002pgx.3_Missense_Mutation_p.S220F|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	220					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CACACCGGGGGAAAAAACAGC	0.507000														9			12		0	0	0.105934	0	0
CNOT1	23019	broad.mit.edu	37	16	58612679	58612679	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:58612679A>C	uc002env.3	-	12	1801	c.1508T>G	c.(1507-1509)aTc>aGc	p.I503S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I503S|CNOT1_uc002enx.3_Missense_Mutation_p.I503S|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	503					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGAGTGGAGATAAGTTCATG	0.448000														38			31		0	0	0.144211	0	0
PMS2	5395	broad.mit.edu	37	7	6042088	6042088	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:6042088T>C	uc003spl.3	-	4	620	c.533A>G	c.(532-534)aAg>aGg	p.K178R	PMS2_uc003spj.3_Missense_Mutation_p.K72R|PMS2_uc003spk.3_Missense_Mutation_p.K43R|PMS2_uc011jwl.2_Missense_Mutation_p.K43R|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.K178R|PMS2_uc010ktf.2_Missense_Mutation_p.K178R	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	178					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGTACCTTCTTAATATTCCT	0.418000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					64			129		0	0	0.139131	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193075	18193075	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:18193075C>T	uc002nhx.1	-	4	296	c.245_splice	c.e4-1	p.G82_splice	IL12RB1_uc002nhw.1_Splice_Site_p.G42_splice|IL12RB1_uc010xqb.1_Splice_Site_p.G42_splice|IL12RB1_uc002nhy.3_Splice_Site_p.G42_splice	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	42	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GAGGCCGAGCCTGGAAGAGAT	0.552000														12			7		0	0	0.038147	0	0
abParts	0	broad.mit.edu	37	2	90199118	90199118	+	RNA	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:90199118C>T	uc010yts.2	+	35		c.4512C>T								Parts of antibodies, mostly variable regions.																		GGACAGATTTCACTCTCACTA	0.488000														379			116		0	0	0.139131	0	0
MGAT4B	11282	broad.mit.edu	37	5	179225962	179225963	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:179225962_179225963GG>AA	uc003mkr.3	-	9	2117_2118	c.1353_1354CC>TT	c.(1351-1356)atccgc>atTTgc	p.R452C	MGAT4B_uc003mkp.3_Missense_Mutation_p.R291C|MGAT4B_uc003mkq.3_Missense_Mutation_p.P212L|MGAT4B_uc003mks.3_Missense_Mutation_p.R437C|MIR1229_uc021yjg.1_5'Flank	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.	437					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R452H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCGGAAGCGGATGAAGTCCC	0.629000														54			20		0	0	0.115264	0	0
LDHB	3945	broad.mit.edu	37	12	21797036	21797036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:21797036G>A	uc001rfd.3	-	3	587	c.254C>T	c.(253-255)tCt>tTt	p.S85F	LDHB_uc001rfe.3_Missense_Mutation_p.S85F	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	85					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	GGCAGTCACAGAATAATCTTT	0.373000														17			13		0	0	0.105934	0	0
PSG3	5671	broad.mit.edu	37	19	43383679	43383679	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:43383679G>A	uc002ovd.1	-	0	193	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L19L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.L19L|PSG3_uc002ova.2_Silent_p.L19L|PSG3_uc002ouz.2_Silent_p.L19L|PSG3_uc002ovb.3_Silent_p.L19L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	19					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCTGTGAGCAGGAGCCCCTTC	0.552000														70			47		0	0	0.139131	0	0
CFI	3426	broad.mit.edu	37	4	110662237	110662237	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:110662237T>A	uc011cft.2	-	13	1796	c.1588A>T	c.(1588-1590)Aaa>Taa	p.K530*	CFI_uc003hzq.3_Nonsense_Mutation_p.K319*|CFI_uc003hzr.4_Nonsense_Mutation_p.K522*	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	522	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAGTCCCCTTTACAGGCATCG	0.453000														113			75		0	0	0.139131	0	0
IGH	0	broad.mit.edu	37	16	33020700	33020700	+	RNA	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:33020700C>T	uc021thd.1	+	0		c.48C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.									p.S36S(1)									CTGGGGGGTCCCTGAGACTGT	0.582000														101			55		0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9070509	9070509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:9070509G>A	uc002mkp.3	-	2	17141	c.16937C>T	c.(16936-16938)tCc>tTc	p.S5646F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5648	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGTGGAGGAAACAGGAGA	0.517000														23			16		0	0	0.038395	0	0
USP6	9098	broad.mit.edu	37	17	5049436	5049436	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:5049436C>T	uc002gau.1	+	27	4516	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	USP6_uc002gav.1_Silent_p.I762I|USP6_uc010ckz.1_Silent_p.I445I	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	762					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAACAAATCCTACTAGCAG	0.348000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									75			40		0	0	0.117977	0	0
NPY2R	4887	broad.mit.edu	37	4	156136099	156136099	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:156136099C>T	uc003ioq.3	+	1	1497	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	NPY2R_uc003ior.3_Silent_p.F336F|NPY2R_uc021xtm.1_Silent_p.F336F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	336					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAGGCTTTCCTCTCGGCCT	0.498000														61			32		0	0	0.054565	0	0
PITX1	5307	broad.mit.edu	37	5	134364509	134364509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:134364509C>T	uc010jea.3	-	2	1298	c.905G>A	c.(904-906)gGc>gAc	p.G302D		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	302						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGAGGCCGGGCCCTGCAGGCC	0.731000														14			5		0	0	0.014758	0	0
SCN9A	6335	broad.mit.edu	37	2	167168163	167168163	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:167168163G>T	uc010fpl.3	-	1	445	c.104C>A	c.(103-105)cCc>cAc	p.P35H		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	35						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCTTCTTTGGGTTCCTTTGA	0.473000														81			32		1.62565e-12	1.82091e-12	0.050027	1	0
MPP6	51678	broad.mit.edu	37	7	24703239	24703240	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:24703239_24703240CC>TT	uc003swx.3	+	6	981_982	c.682_683CC>TT	c.(682-684)cca>TTa	p.P228L	MPP6_uc003swy.3_Missense_Mutation_p.P228L	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	228	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGATTATAATCCATACAATGAC	0.327000														60			7		0	0	0.115264	0	0
KIT	3815	broad.mit.edu	37	4	55564559	55564559	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:55564559G>A	uc010igr.3	+	2	534	c.447G>A	c.(445-447)aaG>aaA	p.K149K	KIT_uc010igs.3_Silent_p.K149K	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	149	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCCTCAAGGGGTGCCAGG	0.532000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					24			19		0	0	0.055883	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307888	140307888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140307888G>A	uc003lih.2	+	0	1587	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.D471N	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGCCCAGGACCCCGACCT	0.522000														64			52		0	0	0.139131	0	0
OMP	4975	broad.mit.edu	37	11	76814343	76814343	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:76814343A>T	uc010rsk.2	+	0	458	c.458A>T	c.(457-459)aAc>aTc	p.N153I	CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	Homo sapiens olfactory marker protein (OMP), mRNA.	153					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGCCCGCCAACCTCAAGGCC	0.632000														57			39		0	0	0.104719	0	0
OVCH1	341350	broad.mit.edu	37	12	29640654	29640654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:29640654C>T	uc001rix.1	-	6	864	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	288	CUB 1.|Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tgataaaatccatcaactcag	0.423000														6			5		0	0	0.014758	0	0
DBI	1622	broad.mit.edu	37	2	120125788	120125788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:120125788G>A	uc002tlv.3	+	1	158	c.34G>A	c.(34-36)Gag>Aag	p.E12K	C2orf76_uc010flf.1_5'Flank|C2orf76_uc002tls.2_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyj.2_Non-coding_Transcript|DBI_uc010yyi.2_Missense_Mutation_p.E29K|DBI_uc010yyk.2_Missense_Mutation_p.E54K|DBI_uc010yyh.2_Missense_Mutation_p.E29K|DBI_uc010yyl.2_Missense_Mutation_p.E29K|DBI_uc010yym.2_Missense_Mutation_p.E22K|DBI_uc010yyn.2_Missense_Mutation_p.E29K|DBI_uc002tlw.3_Missense_Mutation_p.E29K|DBI_uc010yyo.2_Non-coding_Transcript|DBI_uc021vnj.1_Missense_Mutation_p.E73K|DBI_uc002tlx.3_Missense_Mutation_p.E13K|DBI_uc010yyp.1_5'Flank	NM_001079862	NP_001073331	P07108	ACBP_HUMAN	Homo sapiens diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) (DBI), transcript variant 3, mRNA.	12	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	p.A11S(1)		kidney(1)|lung(4)|skin(1)	6						AGCTGCAGAGGAGGTTAGGCA	0.507000														48			63		0	0	0.139131	0	0
PTPRK	5796	broad.mit.edu	37	6	128304508	128304508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:128304508C>T	uc003qbk.3	-	22	3630	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1095Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1089Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1111Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1088	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCAGCCAGTTCGTCCAGCACC	0.383000														3			14		0	0	0.146539	0	0
DAB2	1601	broad.mit.edu	37	5	39383036	39383036	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:39383036T>A	uc003jlx.3	-	9	1556	c.1025A>T	c.(1024-1026)tAc>tTc	p.Y342F	DAB2_uc003jlw.3_Missense_Mutation_p.Y321F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	342					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTGACCAAAGTAGTCAACATC	0.493000														40			28		0	0	0.125774	0	0
DET1	55070	broad.mit.edu	37	15	89073889	89073890	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:89073889_89073890CC>TA	uc002bmq.2	-	2	1269_1270	c.1080_1081GG>TA	c.(1078-1083)gaggat>gaTAat	p.360_361ED>DN	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.349_350ED>DN|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	349						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTTACTACATCCTCACTAGTGT	0.455000														38			12		0	0	0.115264	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015417	21015417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:21015417G>A	uc010sil.2	+	4	618	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E185K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E185K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	185					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGCATAGGGGAAACCCCCAT	0.373000														38			27		0	0	0.134883	0	0
SEMA3A	10371	broad.mit.edu	37	7	83606496	83606496	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:83606496C>G	uc003uhz.3	-	14	1984	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	557					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTTCTTATATCTTGTCGTCTT	0.348000														36			73		0	0	0.139131	0	0
COL4A1	1282	broad.mit.edu	37	13	110850940	110850940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:110850940G>A	uc001vqw.4	-	20	1281	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	387	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTTCACCAGGGAAGCCAGGG	0.572000														87			35		0	0	0.092188	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325586	150325586	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:150325586C>A	uc022apv.1	-	2	790	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.E34*|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	34							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCTTCTGTTCTTTCTCCCTT	0.527000														433			72		3.89499e-28	4.42462e-28	0.139131	1	0
CELSR1	9620	broad.mit.edu	37	22	46859638	46859638	+	Silent	SNP	G	A	A	rs142490459	byFrequency	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:46859638G>A	uc003bhw.1	-	1	4149	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1383	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGTGTAGCCGCCCTCGCGGC	0.682000														15			9		0	0	0.058154	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724523	38724523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:38724523C>T	uc001wum.1	-	0	1052	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	235						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGAGTTTGTCCCAGCGAGCGC	0.622000														106			77		0	0	0.139131	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175539	143175539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:143175539C>T	uc003wdc.1	+	0	574	c.574C>T	c.(574-576)Cct>Tct	p.P192S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGGTCAATTCCTTTTTCTGT	0.403000														71			28		0	0	0.116897	0	0
EXTL3	2137	broad.mit.edu	37	8	28574773	28574773	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:28574773C>T	uc003xgz.1	+	2	1790	c.1197C>T	c.(1195-1197)acC>acT	p.T399T		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	399						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGAATTCACCTGCAAAAACC	0.602000														21			19		0	0	0.043863	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580024	35580024	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:35580024C>T	uc001bym.3	+	9	2739	c.2593C>T	c.(2593-2595)Ctg>Ttg	p.L865L	ZMYM1_uc001byn.3_Silent_p.L865L|ZMYM1_uc010ohu.2_Silent_p.L846L|ZMYM1_uc001byo.3_Silent_p.L505L|ZMYM1_uc009vut.3_Silent_p.L790L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	865						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGAAATTCCTGTATCGAGT	0.328000														20			15		0	0	0.119110	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24892958	24892958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:24892958G>A	uc001upj.3	+	2	230	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	57	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCACCTAGGAGAACCAGGACG	0.498000														55			73		0	0	0.139131	0	0
POLR2A	5430	broad.mit.edu	37	17	7400322	7400322	+	Silent	SNP	C	T	T	rs142508418		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:7400322C>T	uc002ghf.4	+	4	1163	c.777C>T	c.(775-777)tcC>tcT	p.S259S	POLR2A_uc002ghe.3_Silent_p.S259S	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	259					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCCGCTCTCCGTGCGGCCTG	0.607000														8			13		0	0	0.146539	0	0
KCNA10	3744	broad.mit.edu	37	1	111060906	111060906	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:111060906G>A	uc001dzt.1	-	0	892	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	168						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGCTCATAGAAGGAGATTT	0.483000														30			30		0	0	0.125774	0	0
FSHR	2492	broad.mit.edu	37	2	49191042	49191042	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:49191042C>T	uc002rww.3	-	9	1028	c.918G>A	c.(916-918)caG>caA	p.Q306Q	FSHR_uc010fbn.3_Silent_p.Q280Q|FSHR_uc002rwx.3_Silent_p.Q244Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	306					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GACCCCTAGCCTGAGTCATAT	0.388000									Gonadal Dysgenesis, 46 XX					130			47		0	0	0.139131	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														88			4		0	0	0.009096	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542394	86542394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:86542394G>A	uc011kha.2	-	13	2043	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	KIAA1324L_uc003uie.3_Missense_Mutation_p.P453S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.P506S|KIAA1324L_uc003uif.2_Missense_Mutation_p.P372S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	620						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGAGGGCAGGGGACACACGAT	0.527000														28			64		0	0	0.139131	0	0
ZNF219	51222	broad.mit.edu	37	14	21560062	21560062	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:21560062G>C	uc001vzr.2	-	2	1815	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C	ZNF219_uc001vzs.2_Missense_Mutation_p.S465C|ZNF219_uc010aik.1_Missense_Mutation_p.S465C	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	465					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCCAGCAGCAGAGGCAGAGTG	0.706000														20			3		0	0	0.115264	0	0
ZNF212	7988	broad.mit.edu	37	7	148947803	148947803	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:148947803G>C	uc003wfp.3	+	2	574	c.446G>C	c.(445-447)tGt>tCt	p.C149S		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GATGGCGTCTGTTTCACCGAG	0.502000														184			19		0	0	0.055883	0	0
CDH22	64405	broad.mit.edu	37	20	44869728	44869728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:44869728G>A	uc002xrm.2	-	1	823	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	CDH22_uc010ghk.1_Missense_Mutation_p.R142C	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	142	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R142S(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TTGGTGGCGCGATCCCGAGCC	0.607000														38			66		0	0	0.139131	0	0
LIFR	3977	broad.mit.edu	37	5	38523673	38523673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:38523673C>T	uc010ive.1	-	4	741	c.409G>A	c.(409-411)Gat>Aat	p.D137N	LIFR_uc003jli.2_Missense_Mutation_p.D137N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	137					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGAGTATCTGGAATTAAG	0.338000			T	PLAG1	salivary adenoma									53			34		0	0	0.080422	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917466	48917466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:48917466G>A	uc002isv.4	+	1	1511	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	WFIKKN2_uc010dbu.3_Missense_Mutation_p.V180I	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	273	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCCCAGCTGGTCATCTATAA	0.602000														24			34		0	0	0.054565	0	0
OR52L1	338751	broad.mit.edu	37	11	6007636	6007636	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:6007636G>A	uc001mcd.2	-	0	580	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAAGGGGATAAGGAGTA	0.498000														53			37		0	0	0.064281	0	0
ZNF777	27153	broad.mit.edu	37	7	149152756	149152757	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:149152756_149152757GG>AA	uc003wfv.3	-	1	520_521	c.357_358CC>TT	c.(355-360)tcccac>tcTTac	p.H120Y		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGGGGGAGTGGGAGAGAAGGG	0.609000														291			38		0	0	0.115264	0	0
C7	730	broad.mit.edu	37	5	40947800	40947800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:40947800G>A	uc003jmh.3	+	7	949	c.835G>A	c.(835-837)Gag>Aag	p.E279K	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	279	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATTCTGGAAGGAGCTTTCCCA	0.453000														27			22		0	0	0.076483	0	0
GLI2	2736	broad.mit.edu	37	2	121745822	121745822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:121745822G>A	uc010flp.3	+	12	2362	c.2332G>A	c.(2332-2334)Ggg>Agg	p.G778R	GLI2_uc002tmq.1_Missense_Mutation_p.G450R|GLI2_uc002tmr.1_Missense_Mutation_p.G433R|GLI2_uc002tmt.4_Missense_Mutation_p.G450R|GLI2_uc002tmu.4_Missense_Mutation_p.G433R	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	778					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G777G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				Tgggggcggcgggcccgcggg	0.697000														9			14		0	0	0.132662	0	0
MMP15	4324	broad.mit.edu	37	16	58073885	58073885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:58073885C>T	uc002ena.3	+	3	1520	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	183					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGGAGGTGCCCTATGAGGA	0.642000														42			22		0	0	0.069288	0	0
KDM6B	23135	broad.mit.edu	37	17	7752119	7752119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:7752119C>T	uc002gix.3	+	0	1256	c.419C>T	c.(418-420)tCc>tTc	p.S140F	KDM6B_uc002giw.1_Missense_Mutation_p.S838F	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	838					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTCAGTATTCCCCTGGCCCC	0.647000														59			45		0	0	0.139131	0	0
OR10J3	441911	broad.mit.edu	37	1	159284004	159284004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:159284004G>A	uc010piu.2	-	0	446	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATCCCCAGTGATCCAGAGGC	0.512000														29			23		0	0	0.083992	0	0
NPY5R	4889	broad.mit.edu	37	4	164271957	164271957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164271957C>T	uc003iqn.3	+	3	714	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	NPY5R_uc021xtw.1_Missense_Mutation_p.H178Y	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	178					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAGTGTTTCACAGTCTTGT	0.413000														101			92		0	0	0.139131	0	0
ITGA4	3676	broad.mit.edu	37	2	182339762	182339762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:182339762C>T	uc002unu.3	+	2	1158	c.395C>T	c.(394-396)tCc>tTc	p.S132F	ITGA4_uc010zfl.1_Missense_Mutation_p.S132F	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	132					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTCACACTTTCCAGACAGCCA	0.443000														34			12		0	0	0.119110	0	0
BCL11A	53335	broad.mit.edu	37	2	60688589	60688589	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:60688589C>T	uc002sae.1	-	3	1686	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	BCL11A_uc002sab.3_Silent_p.E486E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.E155E|BCL11A_uc010ypj.2_Silent_p.E452E|BCL11A_uc002sad.1_Silent_p.E334E|BCL11A_uc002saf.1_Silent_p.E452E	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	486	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcctcttcctcctcgtccc	0.637000			T	IGH@	B-CLL									81			99		0	0	0.139131	0	0
HYDIN	54768	broad.mit.edu	37	16	70896141	70896141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:70896141G>A	uc002ezr.3	-	68	11735	c.11584C>T	c.(11584-11586)Cag>Tag	p.Q3862*	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3863										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGACTAAGCTGATCTTTTTGA	0.577000														15			13		0	0	0.119110	0	0
CARD14	79092	broad.mit.edu	37	17	78178894	78178894	+	Missense_Mutation	SNP	G	C	C	rs147954634		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:78178894G>C	uc002jxw.1	+	17	2653	c.2459G>C	c.(2458-2460)cGg>cCg	p.R820P	CARD14_uc002jxt.1_Non-coding_Transcript	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	820	Guanylate kinase-like.		R -> W (in dbSNP:rs11652075).		activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACCCTGGTGCGGCCCCATCGA	0.667000														16			8		0	0	0.047766	0	0
PKDCC	91461	broad.mit.edu	37	2	42281233	42281233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:42281233G>A	uc002rsg.3	+	2	999	c.820G>A	c.(820-822)Gtc>Atc	p.V274I		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	274	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						ACTGGGCTCCGTCACTCTGCT	0.632000														55			11		0	0	0.080935	0	0
USP45	85015	broad.mit.edu	37	6	99893858	99893858	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:99893858G>C	uc003ppx.2	-	13	2323	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.S277C	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	597					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGGACTATAAGACCTCAAATG	0.353000														5			18		0	0	0.033300	0	0
FAM123C	205147	broad.mit.edu	37	2	131519903	131519903	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:131519903C>T	uc021voy.1	+	0	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F	FAM123C_uc002trw.2_Silent_p.F86F|FAM123C_uc010fmv.2_Silent_p.F86F|FAM123C_uc010fms.1_Silent_p.F86F|FAM123C_uc010fmt.1_Silent_p.F86F|FAM123C_uc010fmu.1_Silent_p.F86F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	86										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAGCCACCTTCAAACCGGTGC	0.652000														10			12		0	0	0.093190	0	0
PRDM9	56979	broad.mit.edu	37	5	23523410	23523410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:23523410G>A	uc003jgo.3	+	8	1075	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K297*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCACCAAGGGGAGAAACTGC	0.438000										HNSCC(3;0.000094)				51			37		0	0	0.098360	0	0
MARK3	4140	broad.mit.edu	37	14	103871440	103871440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:103871440G>A	uc001ymz.4	+	1	745	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	MARK3_uc001ymx.4_Missense_Mutation_p.E27K|MARK3_uc001ymw.4_Missense_Mutation_p.E27K|MARK3_uc001yna.4_Missense_Mutation_p.E27K|MARK3_uc001ymy.4_Missense_Mutation_p.E27K|MARK3_uc010awp.3_Missense_Mutation_p.E27K	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	27							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TGGGCGTCAAGAAGTTACCTC	0.463000														27			19		0	0	0.043863	0	0
MPP7	143098	broad.mit.edu	37	10	28347511	28347511	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:28347511A>T	uc001iua.1	-	16	1724	c.1320T>A	c.(1318-1320)taT>taA	p.Y440*	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.Y440*|MPP7_uc009xla.2_Nonsense_Mutation_p.Y440*|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	440	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGTTGTTTTTATATTCTCCAT	0.303000														91			51		0	0	0.139131	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:1041878C>T	uc001ift.3	+	2	300	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.P30S	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	77					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.P77L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000														11			15		0	0	0.146539	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596543	53596543	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:53596543G>A	uc003xre.4	-	3	660	c.102C>T	c.(100-102)agC>agT	p.S34S	RB1CC1_uc003xrf.4_Silent_p.S34S	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	34					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCTTGTATTTGCTTTGAATGG	0.403000														39			4		0	0	0.009096	0	0
ATP2A1	487	broad.mit.edu	37	16	28913196	28913196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:28913196G>A	uc002dro.1	+	15	2297	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V705I|ATP2A1_uc002drp.1_Missense_Mutation_p.V580I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	705					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.G704C(1)|p.G704G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGGTGATGGCGTCAATGACGC	0.537000														9			13		0	0	0.093190	0	0
PHKA2	5256	broad.mit.edu	37	X	18944674	18944674	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:18944674C>T	uc004cyv.4	-	13	1786	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	PHKA2_uc010nfg.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	452					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCAATAAGTCCTTAATGTGAT	0.453000														7			25		0	0	0.099896	0	0
MYH1	4619	broad.mit.edu	37	17	10399635	10399635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:10399635C>T	uc002gmo.3	-	33	4982	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1630						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTGGATTTCCATTTCATTG	0.498000														60			67		0	0	0.139131	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676362	20676363	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:20676362_20676363CC>TT	uc001mqd.3	+	15	2615_2616	c.2342_2343CC>TT	c.(2341-2343)tcc>tTT	p.S781F	SLC6A5_uc009yic.3_Missense_Mutation_p.S546F	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	781					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGAACCTCTTCCTTGGGACTCA	0.554000														63			54		0	0	0.115264	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212515562	212515562	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:212515562G>A	uc001hjb.3	+	3	1087	c.513G>A	c.(511-513)gaG>gaA	p.E171E	PPP2R5A_uc010ptd.2_Silent_p.E114E	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	171					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GATTTTTGGAGAGCCCTGATT	0.343000														46			29		0	0	0.144211	0	0
SSH1	54434	broad.mit.edu	37	12	109186226	109186226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:109186226G>A	uc001tnm.3	-	13	1816	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	SSH1_uc001tnl.3_Missense_Mutation_p.P265S|SSH1_uc010sxg.2_Missense_Mutation_p.P588S|SSH1_uc001tnn.4_Missense_Mutation_p.P577S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	577					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGACCTTTGGGACTCCCAAAC	0.617000														49			42		0	0	0.086207	0	0
CNTN5	53942	broad.mit.edu	37	11	99786873	99786873	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:99786873A>C	uc001pga.3	+	6	1169	c.665A>C	c.(664-666)cAt>cCt	p.H222P	CNTN5_uc009ywv.2_Missense_Mutation_p.H222P|CNTN5_uc001pfz.3_Missense_Mutation_p.H222P|CNTN5_uc021qpb.1_Missense_Mutation_p.H222P|CNTN5_uc021qpc.1_Missense_Mutation_p.H148P	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	222	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCGCCACATTCACCAGGT	0.458000														21			3		0	0	0.115264	0	0
GRHL2	79977	broad.mit.edu	37	8	102631910	102631910	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:102631910G>A	uc010mbu.3	+	8	1572	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	414						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCCAGATCAAGGTCTTCTGTG	0.333000														36			24		0	0	0.091800	0	0
PDE8B	8622	broad.mit.edu	37	5	76646915	76646915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:76646915G>A	uc003kfa.3	+	8	1088	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	PDE8B_uc003kfd.3_Missense_Mutation_p.R301K|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.R328K|PDE8B_uc003kfc.3_Missense_Mutation_p.R348K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	348					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TACTATGCCAGACGGAAATCC	0.507000														218			142		0	0	0.139131	0	0
RFX6	222546	broad.mit.edu	37	6	117241473	117241473	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:117241473A>G	uc003pxm.3	+	12	1246	c.1183_splice	c.e12-1	p.I395_splice		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	395					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTATGCAGATTGCCAGACC	0.358000														14			29		0	0	0.050027	0	0
GLG1	2734	broad.mit.edu	37	16	74496465	74496465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:74496465C>T	uc002fcx.3	-	20	2905	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	GLG1_uc002fcw.4_Missense_Mutation_p.G941D|GLG1_uc002fcy.4_Missense_Mutation_p.G952D|GLG1_uc002fcz.4_Missense_Mutation_p.G369D	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	952						Golgi membrane|integral to membrane	receptor binding	p.G952C(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGTCAGGATACCGTGACAGAA	0.443000														35			18		0	0	0.033300	0	0
DSCAM	1826	broad.mit.edu	37	21	41516578	41516578	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:41516578G>A	uc002yyq.1	-	16	3551	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1033	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTTGAATTGGAAGTTACCCC	0.483000														36			57		0	0	0.139131	0	0
INTS5	80789	broad.mit.edu	37	11	62415320	62415321	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:62415320_62415321CC>GT	uc001nud.3	-	1	2284_2285	c.2231_2232GG>AC	c.(2230-2232)ggg>gAC	p.G744D	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	744					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTGACCAAATCCCTCCAGGACC	0.525000														28			21		0	0	0.115264	0	0
SATB2	23314	broad.mit.edu	37	2	200213622	200213622	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:200213622C>T	uc002uuy.2	-	6	1792	c.975G>A	c.(973-975)cgG>cgA	p.R325R	SATB2_uc010fsq.2_Silent_p.R207R|SATB2_uc002uva.2_Silent_p.R325R|SATB2_uc002uuz.2_Silent_p.R325R|SATB2_uc002uvb.1_Silent_p.R68R	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	325						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGCCAGGAGCCGGCTAACGG	0.532000														112			20		0	0	0.069288	0	0
PTPRH	5794	broad.mit.edu	37	19	55707890	55707890	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:55707890C>T	uc002qjq.3	-	10	2330	c.2257_splice	c.e10+1	p.G753_splice	PTPRH_uc010esv.3_Splice_Site_p.G575_splice|PTPRH_uc002qjs.2_Splice_Site_p.G760_splice	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	753					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCCGCTCACCTGCACTCTCG	0.592000														44			21		0	0	0.083992	0	0
ARID1A	8289	broad.mit.edu	37	1	27099360	27099361	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:27099360_27099361CC>TT	uc001bmv.1	+	13	3970_3971	c.3597_3598CC>TT	c.(3595-3600)ttccag>ttTTag	p.Q1200*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1199*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1200*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q817*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q46*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1200					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTCCACATTCCAGAAGCGGAA	0.455000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									28			24		0	0	0.115264	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:46066470C>T	uc003gxb.3	-	4	765	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000														50			42		0	0	0.139131	0	0
ZNF48	197407	broad.mit.edu	37	16	30410306	30410306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:30410306G>A	uc002dya.2	+	1	2111	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	ZNF48_uc021tgi.1_Missense_Mutation_p.G579S|ZNF48_uc021tgj.1_Missense_Mutation_p.G456S|ZNF48_uc021tgk.1_Missense_Mutation_p.G579S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GTGTGGCAAGGGTTTTGGTGA	0.592000														60			40		0	0	0.086207	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:104184490G>A	uc001kvn.2	-	2	285	c.134C>T	c.(133-135)tCg>tTg	p.S45L	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	45						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587000														59			24		0	0	0.108266	0	0
MUC3A	4584	broad.mit.edu	37	7	100606203	100606204	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100606203_100606204GG>AA	uc003uxl.1	+	2	2219_2220	c.1419_1420GG>AA	c.(1417-1422)gtggag>gtAAag	p.E474K	MUC3A_uc003uxk.1_Intron|MUC3A_uc010lhn.1_5'Flank					SubName: Full=Intestinal mucin; Flags: Fragment;									p.E574K(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGATGTAGTGGAGACCGAGGT	0.550000														14			5		0	0	0.115264	0	0
SLC15A4	121260	broad.mit.edu	37	12	129294521	129294521	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:129294521C>G	uc001uhu.2	-	2	1031	c.978G>C	c.(976-978)ttG>ttC	p.L326F	SLC15A4_uc001uhv.2_Intron	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	326					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTATCAAAGCCAAGAAAACAG	0.393000														33			25		0	0	0.116897	0	0
MUC3A	4584	broad.mit.edu	37	7	100552614	100552614	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:100552614C>T	uc003uxl.1	+	0	1865	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCCGACCATCCTGAGGACTT	0.567000														193			165		0	0	0.139131	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117544	117544	+	RNA	SNP	G	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrGL000205.1:117544G>C	uc002kgk.4	+	0		c.922G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGAAATTGCTGTGTGCAGCAT	0.592000														21			4		0	0	0.009096	0	0
TPTE	7179	broad.mit.edu	37	21	10920164	10920164	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:10920164C>T	uc002yip.1	-	19	1458	c.1090_splice	c.e19-1	p.E364_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E346_splice|TPTE_uc002yir.1_Splice_Site_p.E326_splice|TPTE_uc010gkv.1_Splice_Site_p.E226_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	364	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGGCTTTCCTACAAAAAA	0.378000														110			6		0	0	0.038147	0	0
RRP1	8568	broad.mit.edu	37	21	45213219	45213219	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr21:45213219C>T	uc002zds.2	+	3	387	c.294C>T	c.(292-294)gcC>gcT	p.A98A	RRP1_uc011aez.1_Silent_p.A98A|RRP1_uc010gpl.1_5'UTR	NM_003683	NP_003674	P56182	RRP1_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA.	98					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TCCTTCAGGCCTTCTGGCAGA	0.597000														125			47		0	0	0.139131	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:164247100G>A	uc003iqm.2	-	1	1072	c.607C>T	c.(607-609)Cca>Tca	p.P203S	NPY1R_uc021xtv.1_Missense_Mutation_p.P203S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	203					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000														15			10		0	0	0.069234	0	0
OR4K1	79544	broad.mit.edu	37	14	20404445	20404445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:20404445C>T	uc001vwj.2	+	0	679	c.620C>T	c.(619-621)tCa>tTa	p.S207L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCCTGATATCATTGAGCTGT	0.433000														39			27		0	0	0.091800	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512848	70512848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:70512848C>T	uc011caq.2	-	1	631	c.515G>A	c.(514-516)aGg>aAg	p.R172K	UGT2A1_uc010ihu.3_Missense_Mutation_p.R172K|UGT2A1_uc003hem.4_Missense_Mutation_p.R172K|UGT2A1_uc010iht.3_Missense_Mutation_p.R172K	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	172					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGAGAAAACCTCAAGGAGTA	0.423000														20			22		0	0	0.062417	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699958	151699958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:151699958G>A	uc003wkp.3	+	5	1088	c.818G>A	c.(817-819)aGg>aAg	p.R273K	GALNTL5_uc010lqf.3_Missense_Mutation_p.R162K|GALNTL5_uc003wkq.3_Missense_Mutation_p.R24K|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	273						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCTCTTGTAAGGGGAACTTTT	0.438000														170			60		0	0	0.139131	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093746	69093746	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:69093746G>A	uc003hdw.4	-	9	1270	c.1134C>T	c.(1132-1134)atC>atT	p.I378I		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	378	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CAAGATGCCAGATATTTCTGG	0.368000														16			21		0	0	0.055883	0	0
FMN1	342184	broad.mit.edu	37	15	33359296	33359296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:33359296C>T	uc001zhf.4	-	0	790	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	FMN1_uc001zhg.2_Missense_Mutation_p.E264K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	389	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCAGAGACTTCTTTTTTAGAA	0.512000														57			45		0	0	0.139131	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527578	70527578	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:70527578C>T	uc001xly.3	-	2	2617	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.P621P|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Silent_p.P621P|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	621					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCCATTTCGGTTCACCAA	0.343000														37			23		0	0	0.091800	0	0
MLLT10	8028	broad.mit.edu	37	10	21962686	21962686	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:21962686C>T	uc021pny.1	+	9	1459	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	MLLT10_uc001iqs.3_Nonsense_Mutation_p.Q487*|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Nonsense_Mutation_p.Q487*|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	487	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAACAAAAATCAAGAGAATGT	0.403000			T	"""MLL, PICALM, CDK6"""	AL									43			32		0	0	0.144211	0	0
ASB4	51666	broad.mit.edu	37	7	95115312	95115312	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:95115312A>T	uc011kij.2	+	0	100	c.29A>T	c.(28-30)aAa>aTa	p.K10I	ASB4_uc003unx.3_Missense_Mutation_p.K10I	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	10					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTGTCACTAAATCTGGAGCT	0.468000														23			43		0	0	0.117977	0	0
OR14J1	442191	broad.mit.edu	37	6	29274491	29274491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:29274491G>A	uc011dln.2	+	0	25	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTCAATGAGTGGATTCCTTCT	0.418000														115			44		0	0	0.139131	0	0
TRPC6	7225	broad.mit.edu	37	11	101342100	101342100	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:101342100C>G	uc001pgk.4	-	8	2648	c.2223G>C	c.(2221-2223)gaG>gaC	p.E741D	TRPC6_uc009ywy.3_Missense_Mutation_p.E625D|TRPC6_uc009ywz.1_Missense_Mutation_p.E686D	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	741					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAATTTCCACTCCACATCAG	0.438000														51			13		0	0	0.105934	0	0
C8orf80	389643	broad.mit.edu	37	8	27880870	27880870	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:27880870G>A	uc003xgm.4	-	18	2498	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	785						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CCTTGCTGGGGGATGCCCTTA	0.537000														14			10		0	0	0.069234	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442409	41442409	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:41442409G>A	uc010ehg.1	+	2	455	c.447G>A	c.(445-447)gaG>gaA	p.E149E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.E149E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TTCAGGACGAGGCTCAGTGTC	0.542000														11			8		0	0	0.038147	0	0
NDST4	64579	broad.mit.edu	37	4	115891717	115891717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:115891717C>T	uc003ibu.3	-	3	1769	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	364	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAAAGGTCATCTCCTTCATCT	0.378000														11			15		0	0	0.033300	0	0
IMPG1	3617	broad.mit.edu	37	6	76728571	76728571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:76728571C>T	uc003pik.1	-	6	801	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	224					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCTGTTTCTCTTTCCTGAGT	0.413000														3			15		0	0	0.038395	0	0
OR6K3	391114	broad.mit.edu	37	1	158686994	158686994	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:158686994G>A	uc021pbn.1	-	0	912	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F320L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTTGAAGACAGAACAGTTTTT	0.393000														51			29		0	0	0.054565	0	0
ZNF827	152485	broad.mit.edu	37	4	146807227	146807227	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:146807227G>A	uc003ikn.3	-	3	1398	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	ZNF827_uc003ikm.3_Silent_p.L450L|ZNF827_uc010iox.3_Silent_p.L100L	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AACGCATGTGGAGTTTCAGGC	0.552000														12			23		0	0	0.069288	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056848	23056848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:23056848C>T	uc003xda.3	-	7	1051	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	315					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCTGGCTTTCCATTTGCTGCT	0.582000														48			29		0	0	0.116897	0	0
TTN	7273	broad.mit.edu	37	2	179594029	179594029	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:179594029C>G	uc021vsy.1	-	60	15347	c.15122G>C	c.(15121-15123)aGa>aCa	p.R5041T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R1702T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5968	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGGCAACTCTAGTACTGCA	0.403000														54			66		0	0	0.139131	0	0
OR8D2	283160	broad.mit.edu	37	11	124189546	124189546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:124189546G>A	uc010sah.2	-	0	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGTCAATAAGGGGAGAATATC	0.448000														53			6		0	0	0.021553	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276800	15276800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:15276800G>A	uc002nan.3	-	29	5541	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1822					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GATCAGGTCGGAGATGATGCT	0.607000														33			11		0	0	0.093190	0	0
STRAP	11171	broad.mit.edu	37	12	16036573	16036573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:16036573G>A	uc010shw.2	+	2	604	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	STRAP_uc001rdc.4_Missense_Mutation_p.A71T|STRAP_uc001rdd.4_Intron	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	71					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GAATAAGGATGCCACCAAAGC	0.453000														21			8		0	0	0.038147	0	0
PPM1E	22843	broad.mit.edu	37	17	57057398	57057398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:57057398G>A	uc002iwx.3	+	6	1401	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E	PPM1E_uc010ddd.3_Missense_Mutation_p.G188E	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	434	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GTTCTGGATGGGACCGAAGAC	0.493000														33			19		0	0	0.055883	0	0
MRPL45	84311	broad.mit.edu	37	17	36478143	36478143	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:36478143C>T	uc002hpy.3	+	6	956	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_032351	NP_115727	Q9BRJ2	RM45_HUMAN	Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA.	265					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATACCAAGATCGTTCCCCCAT	0.502000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			24		0	0	0.083992	0	0
NLRP9	338321	broad.mit.edu	37	19	56244384	56244384	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:56244384G>A	uc002qly.3	-	1	841	c.813C>T	c.(811-813)ctC>ctT	p.L271L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	271	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATGCAATAAGGAGAGAGGATT	0.408000														28			21		0	0	0.055883	0	0
PRRC2C	23215	broad.mit.edu	37	1	171560901	171560901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:171560901C>T	uc010pmg.2	+	33	8635	c.8369C>T	c.(8368-8370)cCc>cTc	p.P2790L	PRRC2C_uc010pmh.2_Missense_Mutation_p.P1702L|PRRC2C_uc010pmi.2_Missense_Mutation_p.P706L|PRRC2C_uc010pmj.2_Missense_Mutation_p.P322L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	1061							protein C-terminus binding										GAAAAGCCACCCCCTGCACCC	0.473000														64			36		0	0	0.064281	0	0
CLVS1	157807	broad.mit.edu	37	8	62289202	62289202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:62289202C>T	uc003xuh.3	+	2	818	c.494C>T	c.(493-495)tCa>tTa	p.S165L	CLVS1_uc003xug.2_Missense_Mutation_p.H164Y|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	165	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATCCTGCTGTCATTGGAAGTC	0.448000														41			34		0	0	0.104719	0	0
RBM47	54502	broad.mit.edu	37	4	40440476	40440476	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:40440476G>A	uc003gvc.2	-	3	1145	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RBM47_uc003gvd.2_Silent_p.C145C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.C107C|RBM47_uc003gvg.1_Silent_p.C145C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	145	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGCTGCAGCACACGCCGA	0.632000														23			20		0	0	0.062417	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319189	43319189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:43319189G>A	uc010dnk.3	+	7	1115	c.893G>A	c.(892-894)gGg>gAg	p.G298E	SLC14A1_uc002lbi.4_Missense_Mutation_p.G110E|SLC14A1_uc010xcn.2_Missense_Mutation_p.G242E|SLC14A1_uc002lbf.4_Missense_Mutation_p.G242E|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.G137E|SLC14A1_uc002lbh.4_Missense_Mutation_p.G134E|SLC14A1_uc002lbj.4_Missense_Mutation_p.G298E|SLC14A1_uc002lbk.4_Missense_Mutation_p.G242E|SLC14A1_uc021ujg.1_Intron	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	242						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCATGGACAGGGGGCATTTTC	0.483000														33			36		0	0	0.086207	0	0
SYT1	6857	broad.mit.edu	37	12	79679682	79679682	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:79679682G>A	uc001sys.3	+	5	953	c.282G>A	c.(280-282)aaG>aaA	p.K94K	SYT1_uc001syt.3_Silent_p.K94K|SYT1_uc001syu.3_Silent_p.K94K|SYT1_uc001syv.3_Silent_p.K94K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	94					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGAAGGGAAAGGAAAAAGGAG	0.348000														22			12		0	0	0.080935	0	0
CACNA1F	778	broad.mit.edu	37	X	49061615	49061615	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:49061615G>A	uc004dnb.3	-	47	5978	c.5916C>T	c.(5914-5916)gcC>gcT	p.A1972A	CACNA1F_uc010nip.3_Silent_p.A1961A	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1972					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CGTGGACGCAGGCCATCTCGT	0.617000														1			12		0	0	0.093190	0	0
KXD1	79036	broad.mit.edu	37	19	18679426	18679426	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:18679426G>A	uc021uqq.1	+	5	821	c.516G>A	c.(514-516)gaG>gaA	p.E172E	KXD1_uc021uqr.1_Silent_p.E172E|KXD1_uc002njo.3_Silent_p.E172E|KXD1_uc002njq.3_Silent_p.E172E	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	172							protein binding										ATGACGAGGAGATGACGGGCG	0.647000														20			27		0	0	0.091800	0	0
SORL1	6653	broad.mit.edu	37	11	121358779	121358779	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:121358779C>T	uc001pxx.3	+	3	696	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	189					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTCTGGATCACGTTTGACT	0.517000														204			71		0	0	0.139131	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596361	58596361	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:58596361G>A	uc010yht.1	-	6	1422	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	ZSCAN18_uc002qrj.3_Silent_p.S407S|ZSCAN18_uc010yhs.1_Silent_p.S272S|ZSCAN18_uc002qrh.2_Silent_p.S408S|ZSCAN18_uc002qri.2_Silent_p.S408S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	408					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTTCCCGCGGGACAAGCCCG	0.726000														7			6		0	0	0.038147	0	0
ZNF160	90338	broad.mit.edu	37	19	53572028	53572028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:53572028G>A	uc010eqk.3	-	6	2175	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H587Y|ZNF160_uc002qar.4_Missense_Mutation_p.H587Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	587					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTATGAACTCTCCAA	0.413000														61			27		0	0	0.125774	0	0
X97876	0	broad.mit.edu	37	9	66499770	66499770	+	Missense_Mutation	SNP	G	T	T	rs75046133		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:66499770G>T	uc004aee.1	+	0	580	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CAACCTGGTGGCCATCGTGGT	0.582000														70			6		4.3838e-07	4.85609e-07	0.105934	1	0
DOCK11	139818	broad.mit.edu	37	X	117724265	117724265	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:117724265G>A	uc004eqp.2	+	19	2202	c.2139_splice	c.e19+1	p.E713_splice	DOCK11_uc004eqq.2_Splice_Site_p.E479_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	713	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCTATGATGAGGTAAAAATAT	0.353000														6			34		0	0	0.064281	0	0
GPR115	221393	broad.mit.edu	37	6	47682430	47682430	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:47682430C>T	uc003oyz.1	+	6	1620	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	GPR115_uc003oza.1_Silent_p.F483F|GPR115_uc003ozb.1_Silent_p.F483F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	483				EPE -> GPV (in Ref. 6; AAO85068).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCACTTTTTCTACCTCTCTC	0.408000														194			69		0	0	0.139131	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775115	98775115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:98775115C>T	uc010msa.2	+	3	2102	c.1226C>T	c.(1225-1227)cCa>cTa	p.P409L	ERCC6L2_uc011lun.1_Intron			Q5T890	RAD26_HUMAN	RecName: Full=Uncharacterized protein C9orf102;	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATAGAAAATCCAGTGCTGGAA	0.388000														4			28		0	0	0.125774	0	0
SPATA25	128497	broad.mit.edu	37	20	44515315	44515315	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr20:44515315C>T	uc002xqf.3	-	1	534	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	175						integral to membrane											AGATCAGGTCCTCTTCCCGAA	0.647000														47			77		0	0	0.139131	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267877	103267877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:103267877G>A	uc004elr.3	-	0	380	c.356C>T	c.(355-357)aCc>aTc	p.T119I		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	119					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						ACCAGCCTCGGTGGCGATGCG	0.652000														1			11		0	0	0.119110	0	0
NUAK1	9891	broad.mit.edu	37	12	106461156	106461156	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:106461156C>T	uc001tlj.1	-	6	2790	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	470							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTGCTGGGTCTTTTTCAAGA	0.572000														21			27		0	0	0.091800	0	0
DOCK4	9732	broad.mit.edu	37	7	111517203	111517203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:111517203G>A	uc003vfy.3	-	16	1896	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	DOCK4_uc003vfw.3_5'UTR|DOCK4_uc003vfx.3_Missense_Mutation_p.L543F|DOCK4_uc003vga.1_Missense_Mutation_p.L148F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	543	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGAAGTTTGAGGTAGCGGGTA	0.363000														5			14		0	0	0.132662	0	0
TACC3	10460	broad.mit.edu	37	4	1742647	1742647	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:1742647G>A	uc003gdo.3	+	12	2312	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	TACC3_uc003gdp.3_Silent_p.E359E	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	719						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACTCCATGGAGAAGTCCTTCT	0.478000														40			32		0	0	0.144211	0	0
IGHG1	3500	broad.mit.edu	37	14	106204156	106204156	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:106204156C>T	uc001yse.3	-	6	1187	c.741G>A	c.(739-741)gtG>gtA	p.V247V	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GCTTCAGGTCCACCACCGAGG	0.667000														60			19		0	0	0.083992	0	0
TELO2	9894	broad.mit.edu	37	16	1545502	1545503	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:1545502_1545503CC>TT	uc002cly.3	+	2	782_783	c.491_492CC>TT	c.(490-492)ccc>cTT	p.P164L	TELO2_uc010uvg.1_Missense_Mutation_p.P164L	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	164						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GTGGCCCTGCCCGATCACCTGG	0.683000														13			19		0	0	0.115264	0	0
S1PR1	1901	broad.mit.edu	37	1	101705320	101705320	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:101705320C>T	uc021oqt.1	+	0	780	c.780C>T	c.(778-780)atC>atT	p.I260I	S1PR1_uc001dud.2_Silent_p.I260I|S1PR1_uc009weg.2_Silent_p.I260I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGTAATTATCGTCCTGAGCG	0.597000														62			63		0	0	0.139131	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558310	113558310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:113558310G>A	uc010ljy.1	-	0	773	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	248					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTCTGTTAGGAACTTCTTTC	0.303000														189			35		0	0	0.086207	0	0
BIN2	51411	broad.mit.edu	37	12	51707644	51707644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:51707644C>T	uc001ryg.3	-	1	177	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	BIN2_uc009zlz.3_Missense_Mutation_p.R42Q|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.R16Q	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	42	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGTTCAAATCGTTCATCTTT	0.463000														62			31		0	0	0.064281	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:55594880C>T	uc001nhy.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)				101			69		0	0	0.139131	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:9858028C>T	uc010uym.2	-	13	3683	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1125K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E968K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1125K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1125					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(4)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000														75			73		0	0	0.139131	0	0
KCNH8	131096	broad.mit.edu	37	3	19491795	19491795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:19491795G>A	uc003cbk.1	+	8	1768	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	KCNH8_uc011awe.1_Missense_Mutation_p.E525K|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Intron	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	525				E -> Q (in Ref. 3; BAD92290).		integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGATTCAAATGAGGTAATGTT	0.393000														29			20		0	0	0.055883	0	0
HRC	3270	broad.mit.edu	37	19	49657828	49657828	+	Missense_Mutation	SNP	C	T	T	rs139799783		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:49657828C>T	uc002pmv.3	-	0	854	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	223	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.547000														20			12		0	0	0.080935	0	0
DNAH17	8632	broad.mit.edu	37	17	76450757	76450757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr17:76450757G>A	uc010dhp.2	-	63	10326	c.10201C>T	c.(10201-10203)Ccc>Tcc	p.P3401S	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCTCAAGGGATCCAGGCCA	0.577000														32			20		0	0	0.049695	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:47746434C>T	uc003gxm.3	-	4	877	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000														68			48		0	0	0.139131	0	0
CACNA1C	775	broad.mit.edu	37	12	2666141	2666141	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:2666141C>T	uc009zdu.1	+	10	1819	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CACNA1C_uc001qkc.2_Silent_p.F502F|CACNA1C_uc001qjz.2_Silent_p.F502F|CACNA1C_uc001qkd.2_Silent_p.F502F|CACNA1C_uc001qke.2_Silent_p.F502F|CACNA1C_uc001qkf.2_Silent_p.F502F|CACNA1C_uc009zdw.1_Silent_p.F502F|CACNA1C_uc001qkg.2_Silent_p.F502F|CACNA1C_uc001qkh.2_Silent_p.F502F|CACNA1C_uc001qkl.2_Silent_p.F502F|CACNA1C_uc001qkj.2_Silent_p.F502F|CACNA1C_uc001qkk.2_Silent_p.F502F|CACNA1C_uc001qkn.2_Silent_p.F502F|CACNA1C_uc001qkm.2_Silent_p.F502F|CACNA1C_uc001qko.2_Silent_p.F502F|CACNA1C_uc001qkp.2_Silent_p.F502F|CACNA1C_uc001qkq.2_Silent_p.F502F|CACNA1C_uc001qku.2_Silent_p.F502F|CACNA1C_uc001qkr.2_Silent_p.F502F|CACNA1C_uc001qks.2_Silent_p.F502F|CACNA1C_uc001qkt.2_Silent_p.F502F|CACNA1C_uc009zdv.1_Silent_p.F499F|CACNA1C_uc001qkb.2_Silent_p.F502F|CACNA1C_uc001qka.1_Silent_p.F37F|CACNA1C_uc001qki.1_Silent_p.F238F|CACNA1C_uc009zdy.1_Silent_p.F167F|CACNA1C_uc001qkv.1_Silent_p.F72F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	502					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGTCAAAGTTCAGGTGAGTGA	0.498000														28			18		0	0	0.043863	0	0
RNF123	63891	broad.mit.edu	37	3	49753392	49753393	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:49753392_49753393CC>TT	uc003cxh.3	+	32	3374_3375	c.3288_3289CC>TT	c.(3286-3291)ttcctt>ttTTtt	p.L1097F	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1097						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGAGATATTCCTTGACTGGAC	0.589000														41			30		0	0	0.115264	0	0
LRIG3	121227	broad.mit.edu	37	12	59272672	59272672	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:59272672C>A	uc001sqr.3	-	13	2263	c.2017G>T	c.(2017-2019)Gta>Tta	p.V673L	LRIG3_uc009zqh.3_Missense_Mutation_p.V613L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	673	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGCTGTATACCCCAATGTCC	0.478000			T	ROS1	NSCLC									70			26		5.61819e-17	6.32835e-17	0.108266	1	0
PRMT7	54496	broad.mit.edu	37	16	68389640	68389640	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr16:68389640C>T	uc002evy.2	+	16	2009	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	PRMT7_uc010vlg.2_Silent_p.F505F|PRMT7_uc002evz.2_Silent_p.F327F|PRMT7_uc010cfd.1_Silent_p.F47F	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	555					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCCTGGACTTCAGGGAGAGCA	0.667000														11			3		0	0	0.009096	0	0
GGT5	2687	broad.mit.edu	37	22	24622608	24622608	+	Silent	SNP	C	T	T	rs58692741		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:24622608C>T	uc002zzp.4	-	6	1446	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	GGT5_uc002zzo.4_Silent_p.P343P|GGT5_uc002zzr.4_Silent_p.P311P|GGT5_uc002zzq.4_Silent_p.P311P|GGT5_uc011ajm.2_Silent_p.P266P|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	343					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.P343P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCTGGAGCTTCGGGTGGCTTC	0.627000														21			26		0	0	0.083992	0	0
FPR2	2358	broad.mit.edu	37	19	52272052	52272052	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:52272052G>A	uc002pxr.3	+	1	186	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FPR2_uc002pxs.4_Silent_p.V47V|FPR2_uc010epf.3_Silent_p.V47V|FPR2_uc021uyp.1_Silent_p.V47V	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	47					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ATGGGCTTGTGATCTGGGTGG	0.557000														49			29		0	0	0.050027	0	0
ODZ4	26011	broad.mit.edu	37	11	78440627	78440627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:78440627C>T	uc001ozl.4	-	21	3663	c.3200G>A	c.(3199-3201)cGg>cAg	p.R1067Q		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1067					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCCAGGGGTCCGGCTGCTCAG	0.582000														44			31		0	0	0.144211	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468252	120468253	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:120468252_120468253GG>AA	uc001eik.3	-	24	4483_4484	c.4186_4187CC>TT	c.(4186-4188)cct>TTt	p.P1396F		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1396	EGF-like 35.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTAATAAGGAGGCTGGCGC	0.663000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					202			130		0	0	0.115264	0	0
VSTM4	196740	broad.mit.edu	37	10	50315758	50315758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:50315758G>A	uc001jhf.2	-	1	367	c.338C>T	c.(337-339)tCc>tTc	p.S113F	VSTM4_uc001jhh.2_Missense_Mutation_p.S113F	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	113	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGTCAAGACGGAGAGCCTGTA	0.622000														50			37		0	0	0.124865	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423199	107423199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:107423199C>T	uc002tdq.3	-	5	1644	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	ST6GAL2_uc002tdr.3_Missense_Mutation_p.V509M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	509					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGAAGAACCACCTTGCCCTTG	0.562000														61			78		0	0	0.139131	0	0
NPHP4	261734	broad.mit.edu	37	1	5947473	5947473	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:5947473G>A	uc001alq.2	-	17	2626	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	786					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGCCACGACCTCAAGCT	0.642000														31			23		0	0	0.091800	0	0
ABCA7	10347	broad.mit.edu	37	19	1041569	1041569	+	Missense_Mutation	SNP	C	T	T	rs149348071		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr19:1041569C>T	uc002lqw.4	+	2	358	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.R43C	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	43					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCTGTTCGCCACTCCCA	0.627000														34			28		0	0	0.144211	0	0
ACSS3	79611	broad.mit.edu	37	12	81536910	81536910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:81536910C>T	uc001szl.1	+	4	896	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	ACSS3_uc001szm.1_Missense_Mutation_p.R268C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	269						mitochondrion	ATP binding|acetate-CoA ligase activity	p.G268D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTCCCGGTCGTGACCTTGA	0.408000														25			11		0	0	0.080935	0	0
KLHL1	57626	broad.mit.edu	37	13	70281924	70281924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr13:70281924C>T	uc001vip.3	-	9	2814	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KLHL1_uc010thm.2_Missense_Mutation_p.D613N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	674					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATCATATCTAAAA	0.368000														17			34		0	0	0.064281	0	0
PGK2	5232	broad.mit.edu	37	6	49753856	49753856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:49753856C>T	uc003ozu.3	-	0	1198	c.1045G>A	c.(1045-1047)Gct>Act	p.A349T		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	349					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GTTCCCTTAGCAAAGGCATCC	0.483000														171			26		0	0	0.091800	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														94			4		0	0	0.009096	0	0
KDR	3791	broad.mit.edu	37	4	55961074	55961074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr4:55961074G>A	uc003has.3	-	20	3168	c.2866C>T	c.(2866-2868)Cct>Tct	p.P956S	KDR_uc003hat.1_Missense_Mutation_p.P956S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	956	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.I955F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCACAGGGATTGCTCCA	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				51			25		0	0	0.076483	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952963	16952963	+	RNA	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:16952963G>A	uc010ocf.2	-	0		c.32C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTTGGTCACGGAGAGCTCGAG	0.617000														39			8		0	0	0.038147	0	0
SMC1B	27127	broad.mit.edu	37	22	45798262	45798263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:45798262_45798263CC>TT	uc003bgc.3	-	4	856_857	c.804_805GG>AA	c.(802-807)aaggaa>aaAAaa	p.E269K	SMC1B_uc003bgd.3_Missense_Mutation_p.E269K|SMC1B_uc003bge.1_Missense_Mutation_p.E52K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	269					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTCCATGTTCCTTTTTCCTGG	0.337000														47			20		0	0	0.115264	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448656	110448656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:110448656G>A	uc003yne.3	+	29	3699	c.3595G>A	c.(3595-3597)Gat>Aat	p.D1199N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1199	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGAAGGGGATTTGAATAG	0.358000										HNSCC(38;0.096)				23			21		0	0	0.055883	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008975	56008976	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr18:56008975_56008976CC>TT	uc002lgy.3	+	14	1606_1607	c.1323_1324CC>TT	c.(1321-1326)atccgc>atTTgc	p.R442C	NEDD4L_uc002lgz.3_Missense_Mutation_p.R378C|NEDD4L_uc002lgx.3_Missense_Mutation_p.R422C|NEDD4L_uc010xee.1_Missense_Mutation_p.R321C|NEDD4L_uc002lhc.2_Missense_Mutation_p.R434C|NEDD4L_uc002lhd.2_Missense_Mutation_p.R321C|NEDD4L_uc002lhb.2_Missense_Mutation_p.R301C|NEDD4L_uc002lhe.2_Missense_Mutation_p.R414C|NEDD4L_uc002lhf.3_Missense_Mutation_p.R301C|NEDD4L_uc002lhg.3_Missense_Mutation_p.R321C|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	442					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGCCTCAGATCCGCCGGCCTCG	0.520000														5			6		0	0	0.115264	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940135	68940135	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr10:68940135G>A	uc009xpn.1	-	6	1110	c.987C>T	c.(985-987)atC>atT	p.I329I	CTNNA3_uc001jmw.2_Silent_p.I329I|CTNNA3_uc001jmx.4_Silent_p.I329I|CTNNA3_uc009xpo.1_Silent_p.I189I|CTNNA3_uc001jna.2_Silent_p.I341I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	329					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCATTCTGCGATAATCCGCT	0.522000														30			34		0	0	0.050027	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182355	47182355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr12:47182355C>T	uc001rpi.2	-	3	565	c.166G>A	c.(166-168)Gga>Aga	p.G56R	SLC38A4_uc001rpj.2_Missense_Mutation_p.G56R|SLC38A4_uc009zkl.2_Missense_Mutation_p.G56R	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	56					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCCAAAAATCCATTTGTCAGG	0.383000														48			20		0	0	0.062417	0	0
RIN1	9610	broad.mit.edu	37	11	66102509	66102509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr11:66102509G>A	uc001ohn.1	-	5	888	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S149F|RIN1_uc010rpa.1_Missense_Mutation_p.S149F	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	254					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CAGGGGGCTGGAGGTCTCTGT	0.657000														23			14		0	0	0.132662	0	0
MFSD9	84804	broad.mit.edu	37	2	103353173	103353174	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:103353173_103353174CC>TT	uc002tcb.2	-	0	164_165	c.96_97GG>AA	c.(94-99)gcggag>gcAAag	p.E33K	TMEM182_uc002tcc.4_5'Flank|TMEM182_uc002tcd.4_5'Flank|MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_5'UTR	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	33					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TCGGCAGCCTCCGCCTCGGTTC	0.658000														19			35		0	0	0.115264	0	0
JAZF1	221895	broad.mit.edu	37	7	28220173	28220173	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:28220173G>A	uc003szn.3	-	0	265	c.24C>T	c.(22-24)tcC>tcT	p.S8S	JAZF1-AS1_uc011jzq.2_Intron	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	8					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGGAGAAGAAGGAGGCGGCGG	0.672000			T	SUZ12	endometrial stromal tumours									155			302		0	0	0.139131	0	0
LMNA	4000	broad.mit.edu	37	1	156105804	156105804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:156105804C>T	uc001fni.2	+	5	1298	c.1049C>T	c.(1048-1050)gCa>gTa	p.A350V	LMNA_uc001fnf.1_Missense_Mutation_p.A350V|LMNA_uc001fng.2_Missense_Mutation_p.A350V|LMNA_uc001fnh.2_Missense_Mutation_p.A350V|LMNA_uc009wro.1_Missense_Mutation_p.A350V|LMNA_uc010pgz.1_Missense_Mutation_p.A238V|LMNA_uc001fnj.2_Missense_Mutation_p.A269V|LMNA_uc001fnk.2_Missense_Mutation_p.A251V|LMNA_uc009wrp.3_Nonsense_Mutation_p.Q78*|LMNA_uc010pha.1_Missense_Mutation_p.A6V	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	350	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GAGATGCGGGCAAGGATGCAG	0.647000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					145			94		0	0	0.139131	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	134913	134913	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrGL000209.1:134913T>C	uc002quo.2	+	2	237	c.218T>C	c.(217-219)aTt>aCt	p.I73T	KIR2DL2_uc021vdc.1_Missense_Mutation_p.I73T|KIR2DL2_uc021vdd.1_Missense_Mutation_p.I73T|KIR2DL2_uc010evk.1_Intron|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.I73T	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	73	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTGCACCTCATTGGAGAGCAC	0.498000														96			3		0	0	0.115264	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018182	103018183	+	Missense_Mutation	DNP	GG	AA	AA	rs144150940		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:103018182_103018183GG>AA	uc003vbz.3	-	17	2111_2112	c.1849_1850CC>TT	c.(1849-1851)ccc>TTc	p.P617F	SLC26A5_uc003vbt.2_Missense_Mutation_p.P617F|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.P585F	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	617	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CACTATTGGGGGATATTTTACT	0.401000														98			19		0	0	0.115264	0	0
ADAM10	102	broad.mit.edu	37	15	59009911	59009911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr15:59009911G>A	uc002afd.1	-	1	515	c.71C>T	c.(70-72)cCt>cTt	p.P24L	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	24					Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTATTTAAAGGATTCCCATA	0.328000														13			5		0	0	0.021553	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887843	30887843	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr22:30887843G>A	uc003aid.2	-	9	989	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	SEC14L4_uc011akz.1_Silent_p.L297L|SEC14L4_uc003aie.2_Silent_p.L282L|SEC14L4_uc003aif.2_Silent_p.L243L	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	297	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CCCGGGAACAGGATCTCGTTC	0.657000														13			10		0	0	0.069234	0	0
MFSD9	84804	broad.mit.edu	37	2	103335015	103335015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:103335015G>A	uc002tcb.2	-	5	1357	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S369L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	430					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGCAACCCCCGAGAGGAGAGG	0.637000														32			20		0	0	0.049695	0	0
FREM1	158326	broad.mit.edu	37	9	14759870	14759870	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr9:14759870C>A	uc003zlm.3	-	28	6050	c.5234G>T	c.(5233-5235)tGg>tTg	p.W1745L	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.W281L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1745	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGTCTGTGACCATTCAATATG	0.428000														149			35		2.40579e-17	2.71753e-17	0.086207	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501839	140501839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr5:140501839G>A	uc003lip.1	+	0	259	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTGAGGGAGAAACTAGA	0.522000														36			26		0	0	0.091800	0	0
CRIP3	401262	broad.mit.edu	37	6	43276122	43276122	+	Silent	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr6:43276122C>T	uc010jyn.2	-	1	69	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CRIP3_uc003ouu.1_Silent_p.K23K	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	23	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GGTGCCAGTTCTTGCCCAGGG	0.622000														43			20		0	0	0.049695	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475703	52475703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr3:52475703C>T	uc003dea.1	-	5	554	c.554G>A	c.(553-555)gGg>gAg	p.G185E		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	185	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTACAGCTCCCCGTCTGGGGT	0.662000														36			21		0	0	0.055883	0	0
FLJ43860	389690	broad.mit.edu	37	8	142498693	142498693	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr8:142498693G>A	uc003ywi.2	-	5	789	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	236							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTTCCTGGCTGAAGAGCTCCT	0.632000														25			20		0	0	0.091800	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883081	228883081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:228883081G>A	uc002vpq.2	-	6	2536	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S830F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S830F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	830						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTCCTTGGAGGATGTTGT	0.488000														89			41		0	0	0.086207	0	0
CACNA1S	779	broad.mit.edu	37	1	201046174	201046174	+	Silent	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:201046174G>A	uc001gvv.3	-	11	1928	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	567	Poly-Leu.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGATGAAGAGGAAGAGCAGCA	0.557000														37			29		0	0	0.144211	0	0
LANCL2	55915	broad.mit.edu	37	7	55433764	55433764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr7:55433764G>A	uc003tqp.3	+	0	624	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	16					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CCTGGGAGGGGAGGCAGAAAT	0.701000														10			7		0	0	0.029380	0	0
GLRA2	2742	broad.mit.edu	37	X	14625263	14625263	+	Silent	SNP	G	A	A	rs113271440		TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:14625263G>A	uc010neq.3	+	5	1348	c.588G>A	c.(586-588)acG>acA	p.T196T	GLRA2_uc004cwe.4_Silent_p.T196T|GLRA2_uc011mio.2_Silent_p.T107T|GLRA2_uc010nep.3_Silent_p.T196T|GLRA2_uc011mip.2_Silent_p.T174T	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	196					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.T196T(3)|p.T196M(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTGGGTACACGATGAATGACC	0.388000														8			29		0	0	0.045705	0	0
FAF1	11124	broad.mit.edu	37	1	50957438	50957439	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:50957438_50957439delCT	uc001cse.1	-	15	1982_1983	c.1529_1530delAG	c.(1528-1530)gagfs	p.E510fs	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Frame_Shift_Del_p.E268fs	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	510					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.R509G(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCTCATCTTGCTCTCTCTTCAC	0.332													---	67	---	---	18	---					
ZCCHC11	23318	broad.mit.edu	37	1	52962697	52962697	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:52962697delA	uc001cty.2	-	4	1411	c.1158delT	c.(1156-1158)gttfs	p.V386fs	ZCCHC11_uc001ctx.2_Frame_Shift_Del_p.V386fs|ZCCHC11_uc009vze.1_Frame_Shift_Del_p.V386fs|ZCCHC11_uc009vzf.1_Frame_Shift_Del_p.V145fs|ZCCHC11_uc001cub.3_Frame_Shift_Del_p.V386fs|ZCCHC11_uc001cuc.2_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	386					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATGTCGTTATAACCTTTGACA	0.348													---	38	---	---	18	---					
LPPR4	9890	broad.mit.edu	37	1	99771243	99771244	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:99771243_99771244insTT	uc001dse.3	+	6	1127_1128	c.969_970insTT	c.(967-972)ggcttgfs	p.G323fs	LPPR4_uc010oue.2_Frame_Shift_Ins_p.G265fs	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	323							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AACACTAGGGCTTGTATGCTGT	0.450													---	85	---	---	54	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr1:183515266_183515267insA	uc001gqg.3	+	16	2786_2787	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_uc010pob.2_Frame_Shift_Ins_p.E829fs|SMG7_uc021pga.1_Frame_Shift_Ins_p.E758fs|SMG7_uc001gqf.3_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.3_Frame_Shift_Ins_p.E800fs|SMG7_uc010poc.2_Frame_Shift_Ins_p.E804fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	846					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													---	62	---	---	7	---					
SLC20A1	6574	broad.mit.edu	37	2	113416627	113416628	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chr2:113416627_113416628insC	uc002tib.3	+	6	1543_1544	c.1004_1005insC	c.(1003-1005)agcfs	p.S335fs	SLC20A1_uc002tic.1_Frame_Shift_Ins_p.S147fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	335					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGCTTCCCAGCGTGGACTTGA	0.520													---	81	---	---	22	---					
HUWE1	10075	broad.mit.edu	37	X	53574783	53574785	+	In_Frame_Del	DEL	GTG	-	-			TCGA-EE-A29A-06A-12D-A196-08	TCGA-EE-A29A-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7070091e-69f2-4eaf-b4d2-069b8d355128	35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2	g.chrX:53574783_53574785delGTG	uc004dsp.3	-	67	10887_10889	c.10485_10487delCAC	c.(10483-10488)accact>act	p.3495_3496TT>T	HUWE1_uc004dsn.3_In_Frame_Del_p.2303_2304TT>T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3495	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ggaggcggcagtggtggtggtgg	0.591													---	4	---	---	2	---					
